Genetic testing has the power to identify individuals with increased predisposition to disease, allowing individuals the opportunity to make informed management, treatment and reproductive decisions. As genomic medicine continues to be integrated into aspects of everyday patient care and the indications for genetic testing continue to expand, genetic services are increasingly being offered by non-genetic clinicians. The current complexities of genetic testing highlight the need to support and ensure non-genetic professionals are adequately equipped with the knowledge and skills to provide services. We describe a series of misdiagnosed/mismanaged cases, highlighting the common pitfalls in genetic testing to identify the knowledge gaps and where education and support is needed. We highlight that education focusing on differential diagnoses, test selection and result interpretation is needed. Collaboration and communication between genetic and non-genetic clinicians and integration of genetic counsellors into different medical settings are important. This will minimise the risks and maximise the benefits of genetic testing, ensuring adverse outcomes are mitigated.
Humans ; Missed Diagnosis ; Genetic Testing ; Educational Status ; Diagnosis, Differential ; Genotype

Background: Malnutrition is a condition of imbalances in the intake of nutrients and fluids which may translate to poor health outcomes. Based on the Expanded National Nutrition Survey in 2018, eight percent of Filipino adults were found to have chronic energy deficiency (undernutrition), and is most prevalent among the elderly population, residents of the rural area and poorest quintile. Currently, there are no available local guidelines for malnutrition in Filipino adults. Objective: The general objective of this pathway is to improve the quality of health care of the Filipino family through proper recognition and management of malnutrition. Method The PAFP Nutrition Pathway Working Group reviewed published medical literature to identify, and summarize, the clinical content of clinical indicators, diagnostics, interventions, and outcomes to develop an evidence-based clinical pathway in family practice. The group developed a time-related representation of recommendations on patient-centered processes in terms of history and physical examination, laboratory tests, pharmacologic and non-pharmacologic interventions, as well as family-focused interventions and community strategies to properly recognize and treat adults with malnutrition.

We aimed to develop a whole-genome sequencing(WGS)-based copy number variant(CNV)calling algorithm with the potential of replacing chromosomal microarray assay(CMA)for clinical diagnosis.JAX-CNV is thus developed for CNV detection from WGS data.The perfor-mance of this CNV calling algorithm was evaluated in a blinded manner on 31 samples and com-pared to the 112 CNVs reported by clinically validated CMAs for these 31 samples.The result showed that JAX-CNV recalled 100％of these CNVs.Besides,JAX-CNV identified an average of 30 CNVs per individual,representing an approximately seven-fold increase compared to calls of clinically validated CMAs.Experimental validation of 24 randomly selected CNVs showed one false positive,i.e.,a false discovery rate(FDR)of 4.17％.A robustness test on lower-coverage data revealed a 100％sensitivity for CNVs larger than 300 kb(the current threshold for College of American Pathologists)down to 10×coverage.For CNVs larger than 50 kb,sensi-tivities were 100％for coverages deeper than 20×,97％for 15×,and 95％for 10×.We developed a WGS-based CNV pipeline,including this newly developed CNV caller JAX-CNV,and found it capable of detecting CMA-reported CNVs at a sensitivity of 100％with about a FDR of 4％.We propose that JAX-CNV could be further examined in a multi-institutional study to justify the transition of first-tier genetic testing from CMAs to WGS.JAX-CNV is available at https://github.com/The J acksonLaboratory/JAX-CNV.

Today, increasingly more people worldwide are aware about Autism Spectrum Disorder (ASD). However, their actual knowledge about ASD is yet unknown. The lack of knowledge about ASD is especially apparent among the lay people in the community. In this study, the lay knowledge of ASD was investigated using a brief survey involving a community sample in Malaysia. The survey findings revealed that the vast majority of the respondents could relate to ASD as a type of learning disability. However, they were less familiar with the diagnostic features and remedial needs of ASD. They also reported limited knowledge about the social communication and language deficits of ASD. Another noteworthy finding was that the respondents reported different sources of obtaining ASD knowledge according to their demographic profiles (namely age, gender, education and occupation), which correspondingly led to variability in the type of knowledge they obtained. Together, the findings implied that content-specific ASD awareness programs through the right channels are warranted for optimizing efficacy in knowledge transfer and minimizing redundancy in existing ASD awareness campaigns. Increased lay knowledge on ASD will provide a public guardian ground for children with ASD to ensure that the challenges faced by them can be identified at an early age for optimizing the remedial outcomes.

PURPOSE: The purpose of this study was to identify depression and its influencing factor of nurses among comprehensive nursing care service ward. METHODS: The research was cross-sectional descriptive study. The subjects of the study were 173 nurses of comprehensive nursing care service ward in Gyeonggi-do. Data collection was done using self-reported structured questionnaires asking about job stress, emotional labor, job burnout, somatic symptoms, turnover intention, depression and general characteristics from May 16 to June 3, 2016. Data were analyzed with SPSS/WIN 19.0 program. RESULTS: Mean scores of job stress were 159.15(range 43~215), emotional labor 30.90(range: 9~45), job burnout 59.45 (range: 0~132), somatic symptoms 24.03 (range: 12~60), turnover intention 5.61 (range 0~18) and depression 19.25 (range: 0~60) and reported as depression in 63.6%. Somatic symptoms (β=.26, p<.001), job burnout (β=.37, p<.001) had significant associations with depression and the most important variable was job burnout. CONCLUSION: It is necessary to apply the developed program to reduce job burnout in hospitals and to prevent and/or control depression. And also, it needs to improve working conditions and increase the nursing staff to reduce somatic symptoms for nurses among comprehensive nursing care service ward.
Data Collection ; Depression* ; Gyeonggi-do ; Humans ; Intention ; Nursing Care* ; Nursing Staff ; Nursing* ; Somatoform Disorders ; Stress, Psychological

PURPOSE: The purpose of this study was to identify family stress, somatization, social support, depression and its influencing factor among middle-aged workers. METHODS: The research was cross-sectional descriptive study. The subjects were 212 middle-aged workers living in Seoul and Gyeonggi-do. Data collection was done from May 21 to 31, 2015 using self-reported structured questionnaires asking about general characteristics, family stress, somatization, social support and depression. Data were analyzed using descriptive statistics, independent sample t-test, one way ANOVA, Pearson's correlation coefficient, stepwise multiple regression with SPSS/WIN 19.0 program. RESULTS: Mean score of family stress was 41.67 (range: 25~125), somatization 17.42 (range: 12~60), social support 69.79 (range: 12~84) and depression 13.01 (range: 0~60) and reported as depression in 34.0%. Social support (beta=-.36, p<.001), somatization (beta=.28, p<.001), family stress (beta=.15, p=.014) had significant association with depression and the most important variable was social support. CONCLUSION: It is suggested to check social support system in middle aged workers and needed to reinforce social support of community based on the relation of occupational category. Also, it is necessary to legalize the institutional devices to prevent and control depression to ensure industrial safety and disaster prevention.
Data Collection ; Depression* ; Disasters ; Family Characteristics ; Gyeonggi-do ; Humans ; Middle Aged ; Seoul ; Somatoform Disorders

PURPOSE: The purpose of this study was to identify quality of sleep and its influencing factor among middle-aged male workers. METHODS: The subjects of this study were 411 middle-aged male workers living in Seoul and Gyeonggi-do. The data were based from self-reported using structured questionnaires asking about low urinary tract symptoms, circadian rhythm, quality of life and sleep quality including general characteristics. The data were collected from September 11 to October 31, 2013 and analyzed by t-test, one-way ANOVA, Pearson correlation coefficient and hierarchical regression. RESULTS: Mean score of the sleep quality was 5.03+/-2.57 (range: 0~21) and reported as bad sleep quality in 55.7%. Low urinary tract symptoms (beta=.30, p<.001), circadian rhythm (beta=-.17, p<.001), quality of life (beta=-.14, p<.001) were shown as significant association of sleep quality. CONCLUSION: Strategies to improve sleep quality in middle-aged male workers are necessary and nursing intervention should be developed to improve education program for prevention and management of low urinary tract symptoms. It is also necessary to legalize the institutional devices to upgrade work environment and to place regulations on overtime at work places in order for these workers to obtain sufficient sleep time for recovery of biological rhythms and improving sleep quality.
Circadian Rhythm ; Education ; Gyeonggi-do ; Humans ; Male ; Nursing ; Quality of Life ; Surveys and Questionnaires ; Seoul ; Social Control, Formal ; Urinary Tract ; Workplace

PURPOSE: The purpose of this study was to identify quality of sleep and its influencing factor among middle-aged male workers. METHODS: The subjects of this study were 411 middle-aged male workers living in Seoul and Gyeonggi-do. The data were based from self-reported using structured questionnaires asking about low urinary tract symptoms, circadian rhythm, quality of life and sleep quality including general characteristics. The data were collected from September 11 to October 31, 2013 and analyzed by t-test, one-way ANOVA, Pearson correlation coefficient and hierarchical regression. RESULTS: Mean score of the sleep quality was 5.03+/-2.57 (range: 0~21) and reported as bad sleep quality in 55.7%. Low urinary tract symptoms (beta=.30, p<.001), circadian rhythm (beta=-.17, p<.001), quality of life (beta=-.14, p<.001) were shown as significant association of sleep quality. CONCLUSION: Strategies to improve sleep quality in middle-aged male workers are necessary and nursing intervention should be developed to improve education program for prevention and management of low urinary tract symptoms. It is also necessary to legalize the institutional devices to upgrade work environment and to place regulations on overtime at work places in order for these workers to obtain sufficient sleep time for recovery of biological rhythms and improving sleep quality.
Circadian Rhythm ; Education ; Gyeonggi-do ; Humans ; Male ; Nursing ; Quality of Life ; Surveys and Questionnaires ; Seoul ; Social Control, Formal ; Urinary Tract ; Workplace

PURPOSE: The study aimed to identify influencing factors associated with the organizational commitment (OC) among hospital nurses. METHODS: A descriptive correlational design was utilized. The subjects of this study were 447 female nurses working for over 6 months in Seoul. The study was based on the data from a self-reported survey using structured questionnaires. The data were collected from September 10 to 30, 2009 and analyzed using Pearson's correlation coefficients and stepwise multiple regression analysis. RESULTS: The mean score of the OC was 2.45, slightly higher than the intermediate level. The mean score of the three-dimensional domain among the OC, affective commitment (AC) was 2.50, continuance commitment (CC) was 2.59, and normative commitment (NC) was 2.29. The influencing factors of nurses' AC were perceived organizational support (POS) (beta=.31, p<.001), supervisory trust, job burnout, nursing professionalism, and age, which accounted for 49.7%. The influencing factors of the CC were supervisory trust (beta=.20, p<.001), POS, and job burnout whereas the influencing factors of the NC were POS (beta=.40, p<.001), supervisory trust, nursing professionalism, and job burnout. CONCLUSION: It is necessary to develop supportive strategies that increase OC, which also improve the POS, nursing professionalism, and supervisory trust, and alleviate job burnout in hospital nurses.
Female ; Humans ; Surveys and Questionnaires

PURPOSE: This study aimed to identify the physical function test differences between the faller group and the nonfaller group in a sample of the community-dwelling elderly METHODS: This study used a nonexperimental two-group-comparative study design. The participants were 356 people aged 65 years and over living in an urban area. From May to December 2010, data were collected through personal interviews using questionnaires and measurements of muscle strength, physical endurance, flexibility, motor agility and dynamic balance, and static balance. The collected data were analyzed by descriptive statistics, Chi square analysis, and t test. RESULTS: Upper muscle strength was significantly weaker in the faller group (p < .05). Lower muscle strength was significantly weaker in the faller group; both hip flexion (p = .004), knee extension (Right: p = .004; Left: p = .031), left ankle plantar flexion (p = .045), and left ankle inversion (p = .036). Tandem standing with eyes opened and closed was significantly shorter, indicating decreased static balance in the faller group. CONCLUSION: Nurses should make efforts to implement exercise programs focused on physical fitness enhancement for community-dwelling elderly adults for fall prevention.
Accidental Falls ; Adult ; Aged ; Animals ; Ankle ; Eye ; Hip ; Humans ; Knee ; Muscle Strength ; Physical Endurance ; Physical Fitness ; Pliability ; Surveys and Questionnaires