Universal access to genetic counseling for women with epithelial ovarian cancer in Nova Scotia: Evaluating a new collaborative care model.

Women with pathogenic variants in BRCA1/2 have a significantly increased lifetime risk of breast and ovarian cancers. The availability of genetic testing to identify BRCA1/2 carriers is imperative to disease prevention and treatment. We evaluated the effectiveness of a new collaborative care model in Nova Scotia, involving the integration of genetic counselors into tumor board rounds, reduction in time allotted for initial genetic counseling appointments from 60 to 45 min, and a standardized dictation template, to increase referral rate for genetic counseling. We also assessed the study cohorts' preferences on timing for genetic testing. A retrospective chart review was performed on all women diagnosed with epithelial ovarian cancer (EOC) from 2012 to 2017 (N = 386). Pertinent clinical outcomes were categorized and wait times to different nodes of the clinical pathway assessed. A questionnaire was sent to this same cohort of women to identify preference for the timing of genetic testing (n = 103). The chi-square and Wilcoxon's rank-sum tests were used to compare demographic and clinical variables pre- and post-care model implementation. We identified a 48.2% (95% CI: 39.4-56.7, p < .001) increase in referral for genetic counseling following implementation of the new care model. Median time from diagnosis to referral decreased by 74.0 days (p < .001) and median time from referral to first appointment by 54.0 days (p < .001). 56.3% of women desired referral at the time of diagnosis. This care model for women newly diagnosed with EOC in Nova Scotia was successful in increasing referral rates for genetic counseling. Majority of women pursued genetic testing following and favored that referral for genetic counseling be made at the time of diagnosis, highlighting the importance for timely access.

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

PURPOSE: The craniosynostoses are characterized by premature fusion of one or more cranial sutures. The relative contribution of previously reported genes to craniosynostosis in large cohorts is unclear. Here we report on the use of a massively parallel sequencing panel in individuals with craniosynostosis without a prior molecular diagnosis. METHODS: A 20-gene panel was designed based on the genes' association with craniosynostosis, and clinically validated through retrospective testing of an Australian and New Zealand cohort of 233 individuals with craniosynostosis in whom previous testing had not identified a causative variant within FGFR1-3 hot-spot regions or the TWIST1 gene. An additional 76 individuals were tested prospectively. RESULTS: Pathogenic or likely pathogenic variants in non-FGFR genes were identified in 43 individuals, with diagnostic yields of 14% and 15% in retrospective and prospective cohorts, respectively. Variants were identified most frequently in TCF12 (N = 22) and EFNB1 (N = 8), typically in individuals with nonsyndromic coronal craniosynostosis or TWIST1-negative clinically suspected Saethre-Chotzen syndrome. Clinically significant variants were also identified in ALX4, EFNA4, ERF, and FGF10. CONCLUSION: These findings support the clinical utility of a massively parallel sequencing panel for craniosynostosis. TCF12 and EFNB1 should be included in genetic testing for nonsyndromic coronal craniosynostosis or clinically suspected Saethre-Chotzen syndrome.

Muenke syndrome: An international multicenter natural history study.

Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal, and calcaneal fusions, and behavioral differences. Reduced penetrance and variable expressivity contribute to the wide spectrum of clinical findings. Muenke syndrome constitutes the most common syndromic form of craniosynostosis, with an incidence of 1 in 30,000 births and is defined by the presence of the p.Pro250Arg mutation in FGFR3. Participants were recruited from international craniofacial surgery and genetic clinics. Affected individuals, parents, and their siblings, if available, were enrolled in the study if they had a p.Pro250Arg mutation in FGFR3. One hundred and six patients from 71 families participated in this study. In 51 informative probands, 33 cases (64.7%) were inherited. Eighty-five percent of the participants had craniosynostosis (16 of 103 did not have craniosynostosis), with 47.5% having bilateral and 28.2% with unilateral synostosis. Females and males were similarly affected with bicoronal craniosynostosis, 50% versus 44.4% (P = 0.84), respectively. Clefting was rare (1.1%). Hearing loss was identified in 70.8%, developmental delay in 66.3%, intellectual disability in 35.6%, attention deficit/hyperactivity disorder in 23.7%, and seizures in 20.2%. In patients with complete skeletal surveys (upper and lower extremity x-rays), 75% of individuals were found to have at least a single abnormal radiographical finding in addition to skull findings. This is the largest study of the natural history of Muenke syndrome, adding valuable clinical information to the care of these individuals including behavioral and cognitive impairment data, vision changes, and hearing loss.

Patient perception of contemporary nurse attire: a pilot study.

Patients have expressed difficulty accurately distinguishing registered nurses (RNs) from other hospital personnel because standardized uniforms are no longer worn by RNs. According to American studies, such complaints are widespread; moreover, patients' perceptions of nurse caring and competence and of other traits associated with nurses' professional image have been negatively affected by casual, non-conventional attire. As there are no published Canadian studies, we conducted a pilot study to examine patient perception of the nurse uniform. Adult patients viewed photographs of the same RN dressed in eight different uniforms and rated each uniform according to 10 traits associated with nurses' professional image. The white pantsuit scored higher for professionalism than uniforms with small print, bold print, or solid colour, and most patients preferred that the RN dress in white. Our preliminary findings suggest that RN attire warrants further investigation, and we are planning a large-scale, fully powered study to inform patient-driven change to existing uniform policies.

Elucidating the Ruling Relations of Nurses' Work in Labor and Delivery: An Institutional Ethnography.

Obstetrics is a well-known area for malpractice and medical-legal claims, specifically as they relate to injuries the baby suffers during the intrapartum period. There is a direct implication for nurses' work in labor and delivery because the law recognizes that monitoring fetal well-being during labor is a nursing responsibility. Using institutional ethnography, we uncovered how two powerful ruling discourses, namely biomedical and medical-legal risk discourses, socially organize nurses' fetal surveillance work in labor and delivery through the use of an intertextual hierarchy and an ideological circle.

The Prevalence and Predictors of Compassion Satisfaction, Burnout and Secondary Traumatic Stress in Registered Nurses in an Eastern Canadian Province: A Cross-Sectional Study.

BACKGROUND: The quality of Registered Nurses' worklife is impacting nurses' mental health, and the standard of care received by clients. Contributing factors to nurses' stress are the trauma of continuous caring for those in great suffering, and adverse working conditions. OBJECTIVES: i) to explore the prevalence of work-related stress in a provincial sample of Registered Nurses; ii) to compare the levels of compassion satisfaction, burnout and secondary traumatic stress reported by nurses in hospital, community, non-direct care settings, and, iii) to identify factors that predict levels of nursing work stress. METHODS: A descriptive, predictive study with a self-report survey containing demographic questions and the Professional Quality of Life Scale was emailed to over 3,300 Registered Nurses. The scale measured the prevalence of three worklife indicators, compassion satisfaction, burnout and secondary traumatic stress. Multiple linear regression identified factors that predicted the levels of the three indicators. A subgroup analysis explored the quality of worklife based on three practice environments. FINDINGS: Nurses (n = 661) reported moderate compassion satisfaction, burnout, and secondary traumatic stress. The strongest predictor, satisfaction with one's current job, predicted high compassion satisfaction and lower burnout and secondary stress. The subgroup analysis identified hospital nurses as having the most work-related stress and the lowest level of compassion satisfaction. CONCLUSION: Innovative, collaborative action can transform nurses' practice environments. Organizational support is essential to bring about needed improvements.

Using Institutional Ethnography to Explicate the Everyday Realities of Nurses' Work in Labor and Delivery.

Fetal health surveillance is a significant everyday work responsibility for labor and delivery nurses. Here, nursing care is increasingly focused on technological interventions, particularly with the use of continuous electronic fetal monitoring. Using Institutional Ethnography, we explored how nurses conduct this work and uncovered the ruling relations coordinating how nurses "do" fetal health surveillance. Analysis revealed how these powerful ruling relations associated with the biomedical and medical-legal discourses coordinated nurses' fetal monitoring work. Forms requiring documentation of biophysical data caused nurses to focus on technological interventions with much less attention given to holistic and supportive care measures. In doing so, nurses inadvertently activated and participated in these powerful ruling discourses. The practice of ensuring the safe birth of the baby through advances in technological surveillance and medical interventions took priority over well-established approaches to holistic nursing care.

Homozygous UNC13A Variant in an Infant With Congenital Encephalopathy and Severe Neuromuscular Phenotype: A Case Report With Detailed Central Nervous System Neuropathologic Findings.

Uncoordinated 13 (UNC13A) affects movement in Caenorhabditis elegans (C. elegans). It is responsible for docking, priming, and stabilizing synaptic vesicle fusion complexes in the neuronal synapse and neuromuscular junction (NMJ). It also plays an important role in central nervous system development. We report the detailed clinical history and central nervous system neuropathologic findings in an infantile case with homozygous UNC13A loss of function variant, in order to advance the understanding of this critically important synaptic vesicle protein. This is the first detailed central nervous system neuropathologic report of this rare case of homozygous UNC13A loss.

An Exploration of Facilitators and Challenges to Young Adult Engagement in a Community-Based Program for Mental Health Promotion.

Adolescence and young adulthood can be particularly daunting for those with mental health concerns. In one Canadian city, a community-based drop-in psychosocial mental health center (Center) was designed specifically for youth who self-identified as struggling with mental health issues. The purpose of this study was to identify the features of the program that promoted or discouraged engagement. Narrative inquiry was used to guide the project. One-on-one interviews were conducted with 10 Center users. Four major categories were identified: (a) Reasons for Coming: Motivated to Work on Goals; (b) Facilitators of Engagement and Beyond; (c) Challenges to Engagement; and (d) Benefits of Engaging: Finding My Way. These categories were further delineated into themes. All participants had experienced trauma, and the Center assisted them in their coping. The researchers believe that to aid recovery, agencies working with this population need to use trauma-informed and healing-centered engagement.