The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt.

Biallelic loss-of-function variants in the MUSK gene result in two allelic disorders: (1) congenital myasthenic syndrome (CMS; OMIM: 616325), a neuromuscular disorder that has a range of severity from severe neonatal-onset weakness to mild adult-onset weakness, and (2) fetal akinesia deformation sequence (OMIM: 208150), a form of pregnancy loss characterized by severe muscle weakness in the fetus. The MUSK gene codes for muscle-specific kinase (MuSK), a receptor tyrosine kinase involved in the development of the neuromuscular junction. Here, we report a case of neonatal-onset MUSK-related CMS in a patient harboring compound heterozygous deletions in the MUSK gene, including (1) a deletion of exons 2-3 leading to an in-frame MuSK protein lacking the immunoglobulin 1 (Ig1) domain and (2) a deletion of exons 7-11 leading to an out-of-frame, truncated MuSK protein. Individual domains of the MuSK protein have been elucidated structurally; however, a complete MuSK structure generated by machine learning algorithms has clear inaccuracies. We modify a predicted AlphaFold structure and integrate previously reported domain-specific structural data to suggest a MuSK protein that dimerizes in two locations (Ig1 and the transmembrane domain). We analyze known pathogenic variants in MUSK to discover domain-specific genotype-phenotype correlations; variants that lead to a loss of protein expression, disruption of the Ig1 domain, or Dok-7 binding are associated with the most severe phenotypes. A conceptual model is provided to explain the severe phenotypes seen in Ig1 variants and the poor response of our patient to pyridostigmine.

Adults with lysosomal storage diseases in the undiagnosed diseases network.

OBJECTIVES: To review the referral and clinical characteristics of adult patients diagnosed with lysosomal storage diseases (LSD) through the Undiagnosed Diseases Network (UDN). METHODS: Retrospective review of both application and evaluation records for adults admitted to the UDN with a final diagnosis of a lysosomal storage disease. RESULTS: Ten patients were identified. Final diagnoses included late onset Tay Sachs, attenuated MPS I, MPS IIIA, MPS IIIB, and MPS IIIC. Most patients presented with neurocognitive changes. Prior to referral, all patients had been evaluated by neurology, four patients underwent phenotype specific panel testing that did not include the causative gene, and four patients had non-diagnostic clinical exome sequencing. CONCLUSIONS: LSDs figure highly in the differential diagnosis of neurometabolic disorders in pediatric onset progressive diseases. In adults, their subtle initial presentations overlap with symptoms of more common disorders and less practitioner awareness may lead to prolonged diagnostic challenges.

The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.

While genomic sequencing (ES/GS) has the potential to diagnose children with difficult to diagnose phenotypes, the goal should be not only a diagnosis, but also to empower parents to seek next steps for their children and to emotionally manage the outcome, whether or not a diagnosis is secured. To help achieve this goal, objective measures are needed to assess the process of parental empowerment related to genome sequencing. We present the validity and reliability of the Genome Empowerment Scale (GEmS), developed using a healthcare empowerment theoretical model. To evaluate its psychometric properties, 158 parents of 117 children with an undiagnosed condition undergoing genomic sequencing completed the GEmS, measures for criterion validity and for depression and anxiety. Factor analysis resulted in a four factor solution: (a) meaning of a diagnosis; (b) emotional management of the process; (c) seeking information and support and (d) implications and planning. Reliability and validity analyses show that the GEmS has good psychometric properties. The inter-relationships among the factors revealed a profile that may identify parents at risk for a poorer outcome who may benefit from targeted genetic counseling. The GEmS, an objective measure of parental genomic empowerment, can be utilized for future research and translational applications.

Design and evaluation of a 3D virtual environment for collaborative learning in interprofessional team care delivery.

BACKGROUND: Collaborative learning in interprofessional team care delivery across different healthcare courses and institutions is constrained by geographical locations and tedious scheduling. Three dimensional virtual environments (3D-VE) are a viable and innovative tool to bring diverse healthcare students to learn together. AIM: The aim of this study is to describe the development of a 3D-VE and to evaluate healthcare students' experiences of their collaborative learning in the environment. METHOD: A mixed methods study design was employed. Participants from six healthcare courses (Medicine, Nursing, Pharmacy, Physiotherapy, Occupational Therapy, and Medical Social Work) were recruited from three institutions to form six interprofessional teams to participate in team care delivery via a 3D-VE. Pre- and post-tests were conducted to evaluate the students' attitudes toward healthcare teams and interprofessional collaboration. Four focus groups were conducted with 27 healthcare students after they completed questionnaires to evaluate their perceived usability, the sociability of computer-supported collaborative learning, and senses of presence. Interview transcripts were analyzed using thematic analysis. RESULT: The students demonstrated significant improvements in their attitudes toward healthcare teams (p < 0.05) and interprofessional collaboration (p < 0.001) after the collaborative learning. Four themes emerged from the focus group discussions: "feeling real", whereby the students felt immersed in their own roles; the virtual environment was perceived as "less threatening" compared to face-to-face interactions; "understanding each other's roles" among different healthcare professionals; and there were some "technical hiccups" related to sound quality and navigation. The participants reported positively on the usability (mean 3.48, SD 0.64), feasibility (mean 3.39, SD 0.60) and perceived sense of presence (mean 107.24, SD 17.78) of the 3D-VE in supporting collaborative learning. CONCLUSION: Given its flexibility, practicality, and scalability, this 3D-VE serves as a promising tool for collaborative learning across different healthcare courses and institutions in preparing for future collaborative-ready workforces.

Finding the Right Blend of Technologically Enhanced Learning Environments: Randomized Controlled Study of the Effect of Instructional Sequences on Interprofessional Learning.

BACKGROUND: With the availability and capabilities of varied technologically enhanced learning activities, the blended learning approach has become increasingly popular in interprofessional education. The combined use of different technologically enhanced learning activities has not been fully examined, particularly to determine the effects of instructional sequences for effective learning outcomes. OBJECTIVE: The objective of this study was to investigate whether the instructional sequences of a blended learning approach can improve students' learning outcomes on interprofessional competencies. METHODS: A randomized controlled study was conducted with 40 interprofessional health care teams. These teams undertook three technologically enhanced learning activities-Web-based instruction (WI), virtual reality (VR), and simulation exercise (SE)-after random assignment to three groups based on three different instructional sequences (WI-VR-SE, WI-SE-VR, and SE-WI-VR). Pretests and posttests were conducted to evaluate the students' learning outcomes on interprofessional competencies. RESULTS: A total of 198 participants from the three groups completed the questionnaires. All three groups reported significant improvement in their levels of self-efficacy (P<.05) and attitudes (P<.001) toward interprofessional team care about 1 month after the interprofessional learning activity. Although no significant difference was found (P=.06) between the WI-VR-SE and WI-SE-VR groups in the self-efficacy posttests, participants in the SE-WI-VR group reported significantly lower (P<.05) posttest scores than those in the WI-SE-VR group. The majority of the participants (137/198, 69.1%) selected the instructional sequence "WI-VR-SE" as their top preference. CONCLUSIONS: This study shows that the instructional sequence of a blended learning approach can have a significant impact on students' learning outcomes. The learning of concepts from WI followed by problem-solving activity in the SE was found to be a more effective learning sequence than the reverse sequence. We recommend that future studies focus on scaffolding students' learning when planning instructional sequences for technologically enhanced learning activities within blended learning environments.

Development and psychometric testing of an instrument to compare career choice influences and perceptions of nursing among healthcare students.

BACKGROUND: With the availability of more healthcare courses and an increased intake of nursing students, education institutions are facing challenges to attract school leavers to enter nursing courses. The comparison of career choice influences and perception of nursing among healthcare students can provide information for recruitment strategies. An instrument to compare the influences of healthcare career choice is lacking. The purpose of this study is to develop and evaluate the psychometric properties of an instrument to compare the influences of healthcare career choice with perceptions of nursing as a career choice. METHODS: The study was conducted in two phases. In phase one, two sets of scales with parallel items that measure the influences of healthcare career choice and perceptions of nursing as a career choice were developed through an earlier qualitative study, literature review, and expert validation. Phase two involved testing the construct validity, concurrent validity and reliability with a convenience sample of 283 first year healthcare students who were recruited at two education institutions in Singapore. RESULTS: An exploratory factor analysis revealed 35-parallel items in a six-factor solution (personal interest, prior healthcare exposure, self-efficacy, perceived nature of work, job prospects, and social influences) that explained 59 and 64% of the variance for healthcare career choice and nursing as a career choice respectively. A high correlation (r = 0.76, p < 0.001) was obtained with an existing tool, confirming the concurrent validity. The internal consistency was sufficient with Cronbach's alpha of 0.93 for healthcare career choice and 0.94 for nursing as a career choice. The test-retest reliability was acceptable with an Intraclass Correlation Coefficient of 0.63 for healthcare career choice and 0.60 for nursing as a career choice. CONCLUSIONS: The instrument provides opportunities for understanding the differences between influences of healthcare career choice and perceptions of nursing as a career choice. This comparative understanding of career choice influences can guide educator and policy-makers on nursing recruitment.

Career choice and perceptions of nursing among healthcare students in higher educational institutions.

BACKGROUND: Due to the ageing population and competition from other healthcare courses, a greater demand in the healthcare workforce has made it challenging for educational institutions to attract school leavers to enter nursing courses. Understanding the considerations of students who have chosen non-nursing healthcare courses and their perceptions of nursing can help identify specific strategies to enhance the attractiveness of nursing course. This study aims to examine the differences between healthcare career choices and perceptions of nursing as a career choice among first-year non-nursing healthcare students. METHOD: A descriptive survey design was conducted at the beginning of the healthcare courses of seven healthcare groups and from four higher educational institutions in Singapore. A total of 451 students responded, yielding an overall response rate of 52.7%. The online survey was administered using a valid and reliable 35-item parallel scale, known as the Healthcare Career Choice and Nursing Career Choice. RESULTS: The participants perceived prior healthcare exposure as the most influential factor and self-efficacy as the least influential factor when choosing nursing as a career. In comparison to their own healthcare career choices, nursing was perceived to have greater gender stigma and, as nurses, they would be less likely to achieve higher qualifications and career advancements, and they would be less likely to enjoy fulfilling careers. They also perceived that they would be less likely to gain their parents' support to pursue nursing and to make their parents proud. CONCLUSIONS: This study provides educators and policy-makers with vital information to develop key strategies to improve nursing enrolment in educational institutions. These strategies include early exposure to nursing as a rewarding career during school years, addressing the issue of gender stigma, and promoting information on the career and educational advancement of a registered nurse to parents of school leavers.

Experiences of Patients Living With Heart Failure: A Descriptive Qualitative Study.

The purpose of this study was to explore the experiences, needs, and coping strategies of patients living with heart failure in Singapore. A descriptive qualitative design was used. A purposive sample of 15 informants was recruited from two cardiology wards of a tertiary public hospital in Singapore. Individual face-to-face interviews were conducted with a semistructured interview guideline that was developed based on a review of the literature and a pilot study. Content analysis was adopted to analyze the data, and four main categories were identified: perceived causes, manifestations, and prognosis; enduring emotions; managing the condition; and needs from health care professionals. The informants were overwhelmed with the experience of living with heart failure due to the disruptive and uncertain nature of the condition. This study offers health care professionals practical and useful suggestions when providing holistic care for patients with heart failure.

A salutogenic program to enhance sense of coherence and quality of life for older people in the community: A feasibility randomized controlled trial and process evaluation.

OBJECTIVE: To determine the feasibility of a salutogenesis-based self-care program on quality of life, sense of coherence, activation and resilience among older community dwellers. METHODS: This is a feasibility randomized controlled trial. Sixty-four older community-dwellers were recruited from a Singapore senior activity center and randomly assigned to intervention and control groups. The intervention group attended a 12-week Resource Enhancement and Activation Program. The outcomes were assessed with the Chinese versions of World Health Organization Quality of Life Scale, Sense of Coherence, Patient Activation Measure, and Connor-Davidson Resilience Scale. Process evaluation was conducted using focus groups with the intervention group. RESULTS: At the end of the program, the intervention group showed significant improvement in the Sense of Coherence scale and the psychological subscale of the WHO Quality of Life scale compared with the control group. Three themes emerged from the process evaluation: participation in the program, reflection on the experience, and improving the experience. CONCLUSION: A salutogenic self-care approach could be a potential health promotion strategy for older people. PRACTICE IMPLICATIONS: With improved sense of coherence and psychological aspect of quality of life, older people's self-care ability may improve, leading to better health and better quality of life.

A Narrative Literature Review of the Experiences of Patients Living With Heart Failure.

This article reviews the literature on the experiences of patients with heart failure and their coping strategies and learning needs. Previous studies have consistently demonstrated that heart failure had negative impacts on the individuals who experienced it. Studies have also focused on the learning needs and the various coping strategies that patients with heart failure have adopted. However, there are limited studies that have investigated the experience of heart failure from the Asian patient's perspective. By incorporating the perspectives of patients with heart failure from the Asian context into clinical practices, research will promote patient-centered holistic care and improve patients' quality of life and satisfaction.

Back to the beginning: Perceptions of older Singaporean couples living alone.

Singapore has an aging population that is projected to increase by 32% in 2100. The majority of older couples live alone. "Aging in Place" is an initiative that is widely promoted by the government, in which older people are supported to live in their own homes. In this qualitative study, we explored the perceptions of older people living with their spouse in Singapore. Fifteen community-dwelling older participants were interviewed. Four themes emerged from the thematic analysis: (i) maintaining health and mobility; (2) maintaining relationships with spouse; (iii) maintaining relationship with others; and (iv) living the last leg of the race. The older people living on their own were generally content about maintaining their interdependence and complementary roles. Insights gathered from this study have relevance to implementation of the Aging-in-Place policy to ensure that older people receive the support they need to maintain their physical and psychosocial well-being while living on their own.

The learning experiences of senior student nurses who take on the role of standardised patient: a focus group study.

The use of clinical simulation involving standardised patients is increasing in nursing education programmes. In this study, we sought to identify whether participation in simulation through taking on the role of standardised patients benefited student nurses in terms of knowledge and skill development, and if so, how. Data was collected in two focus group interviews with fifteen senior undergraduate nursing students in 2011 and subjected to processes of thematic analysis. Four main themes were identified--seeing the nurse through the eyes of the patient, using observation skills, using reflection and evaluation. Being in the standardised patients role provided students with the opportunity to apply the clinical skills of observation, reflection and evaluation to gain new insights into their own practice, particularly their communication skills. Although there were unique learning opportunities for senior student nurses offered by their experience as standardised patient, more research is need to determine how well this knowledge is translated into practice as they take on the role of registered nurses in the future.

Integrative review: salutogenesis and health in older people over 65 years old.

AIMS: To synthesize the evidence in published studies that used a salutogenic framework to explore the relationship between generalized resistance resources, a sense of coherence, health and the quality of life in people aged 65 years and over. BACKGROUND: Since 1979, increasing interest has been shown in salutogenesis and the relationship of generalized resistance resources and a sense of coherence with health and quality of life. With populations ageing, it is important to explore how older people can advance in years successfully and continue to enjoy good health and an acceptable quality of life. DESIGN: Integrative review. DATA SOURCES: CINAHL Plus with full text, JSTOR, PsycInfo, PubMed, SCOPUS, Sociological Abstracts and Web of Science were searched for studies published from 1979-2011. REVIEW METHODS: The integrative review adopted a five-stage approach - problem identification, literature search, data evaluation, data analysis and presentation. RESULTS: Eight studies - one qualitative and seven cross-sectional quantitative studies - from Western countries were included in the review. In general, a strong sense of coherence among older people was correlated with better physical, social and mental health. The use of generalized resistance resources, such as appraisal, coping strategies and social support, was correlated with their sense of coherence, perceived holistic health and quality of life. CONCLUSION: In communities, older people who have access to generalized resistance resources are more likely to have a strong sense of coherence, relatively good health and an acceptable quality of life. Further intervention studies should address how older people can develop and employ generalized resistance resources.