Background: Achieving a definitive genetic diagnosis of unexplained multiple congenital anomalies (MCAs) in neonatal intensive care units (NICUs) infants is challenging because of the limited diagnostic capabilities of conventional genetic tests. Although the implementation of whole genome sequencing (WGS) has commenced for diagnosing MCAs, due to constraints in resources and faculty, many NICUs continue to utilize chromosomal microarray (CMA) and/or karyotyping as the initial diagnostic approach. We aimed to evaluate the diagnostic efficacy of WGS in infants with MCAs who have received negative results from karyotyping and/or CMA. Methods: In this prospective study, we enrolled 80 infants with MCAs who were admitted to a NICU at a single center and had received negative results from CMA and/or karyotyping.The phenotypic characteristics were classified according to the International Classification of Diseases and the Human Phenotype Ontology. We assessed the diagnostic yield of trioWGS in infants with normal chromosomal result and explored the process of diagnosing by analyzing both phenotype and genotype. Also, we compared the phenotype and clinical outcomes between the groups diagnosed with WGS and the undiagnosed group. Results: The diagnostic yield of WGS was 26% (21/80), of which 76% were novel variants.There was a higher diagnostic yield in cases of craniofacial abnormalities, including those of the eye and ear, and a lower diagnostic yield in cases of gastrointestinal and genitourinary abnormalities. In addition, higher rates of rehabilitation therapy and gastrostomy were observed in WGS-diagnosed infants than in undiagnosed infants. Conclusion This prospective cohort study assessed the usefulness of trio-WGS following chromosomal analysis for diagnosing MCAs in the NICU and revealed improvements in the diagnostic yield and clinical utility of WGS.

Background/Aims: This study aimed to develop a rehabilitation program for musculoskeletal pain experienced by gastrointestinal endoscopists and to investigate its usefulness. Methods: This was a multicenter cohort study. During the first 2 weeks, a questionnaire regarding daily workload and musculoskeletal symptoms was administered. Then, a rehabilitation program including equipment/posture correction and stretching was conducted during the remaining 6 weeks. Follow-up daily workload and musculoskeletal symptom surveys were distributed during the last 2 weeks. The program satisfaction survey was performed at the 6th and 8th weeks. Results: Among 118 participants (69 men), 94% (n=111) complained of musculoskeletal pain at baseline. Various hospital activities at baseline were associated with multisite musculoskeletal pain, whereas only a few workloads were correlated with musculoskeletal pain after the rehabilitation program. Follow-up musculoskeletal pain was negatively correlated with equipment/ posture program performance; arm/elbow pain was negatively correlated with elbow (R=–0.307) and wrist (R=–0.205) posture; leg/foot pain was negatively correlated with monitor position, shoulder, elbow, wrist, leg, and foot posture. Higher performance in the scope position (86.8% in the improvement vs 71.3% in the aggravation group, p=0.054) and table height (94.1% vs 79.1%, p=0.054) were associated with pain improvement. An increased number of colonoscopy procedures (6.27 in the aggravation vs 0.02 in the improvement group, p=0.017) was associated with pain aggravation. Most participants reported being average (32%) or satisfied (67%) with the program at the end of the study. Conclusions Our rehabilitation program is easily applicable, satisfactory, and helpful for improving the musculoskeletal pain experienced by gastrointestinal endoscopists.

Objectives: Recent epidemiological data reported that young adults in their 20 ~ 30s are a vulnerable population with unhealthy dietary practices and a few signs of deteriorated health indicators. However, there are no dietary guidelines that are specifically developed for the young adult population. This study introduces some data collection tools that are mostly used in the service design field, and demonstrates how these tools can be used in nutrition research for developing dietary guidelines for specific target groups. Methods: To understand the context of food choices among young people, 39 people were enrolled to complete a probes booklet. Thematic analysis and word cloud were performed to capture the main themes from the probes and a persona was developed based on the findings. Results: Data from the probes enabled us to grasp the various contextual meanings of eating practices among young people. Most participants understand what a healthy diet is and often have a willingness to practice it. However, there were very few participants who were following the practices. We created four types of persona for developing dietary guidelines: healthy eating, emotional eating, convenient eating, and trendy eating. Conclusions Probes and persona were used in order to understand the lives of young adults and develop targeted messages. We hope that this introduction will be helpful to researchers who are looking for new ways of understanding their target population in the field of community nutrition.

During the 2019 domestic measles outbreak in Korea, measles occurred in healthcare workers with two doses of the measles, mumps and rubella vaccine, and the strict application of the Occupational Safety and Health Act required medical institutions to identify healthcare workers' immunity to measles and vaccinate the susceptible pockets. In response to the frontline medical institutions' request to review the measles recommendations and guidelines, the Korean Society of Infectious Diseases held a roundtable discussion on the causes of measles outbreak, timing of vaccinations, antibody tests, and booster vaccinations for healthcare workers, and financial support from the government and municipality as well as response strategies against the outbreak in healthcare settings. In Korea, the seroprevalence of measles is decreasing in the vaccine-induced immunity group during the maintenance of measles elimination over several years. The susceptible group against measles is in their 20s and 30s, and this may be because of waning immunity rather than nonresponse considering Korea's vaccine policy. The risk of measles nosocomial infection from community increases as these susceptible pockets actively engage in medical institutions.Thus, data on the immunity of low seroprevalence group in Korea are needed, further discussion is needed on the booster vaccination based on the data. Especially, antibody testing and vaccination in healthcare workers may be necessary to prevent the spread of measles in medical insutitutions, and further discussion is needed regarding specific testing methods, and the timing and frequency of test and vaccination.

During the 2019 domestic measles outbreak in Korea, measles occurred in healthcare workers with two doses of the measles, mumps and rubella vaccine, and the strict application of the Occupational Safety and Health Act required medical institutions to identify healthcare workers' immunity to measles and vaccinate the susceptible pockets. In response to the frontline medical institutions' request to review the measles recommendations and guidelines, the Korean Society of Infectious Diseases held a roundtable discussion on the causes of measles outbreak, timing of vaccinations, antibody tests, and booster vaccinations for healthcare workers, and financial support from the government and municipality as well as response strategies against the outbreak in healthcare settings. In Korea, the seroprevalence of measles is decreasing in the vaccine-induced immunity group during the maintenance of measles elimination over several years. The susceptible group against measles is in their 20s and 30s, and this may be because of waning immunity rather than nonresponse considering Korea's vaccine policy. The risk of measles nosocomial infection from community increases as these susceptible pockets actively engage in medical institutions.Thus, data on the immunity of low seroprevalence group in Korea are needed, further discussion is needed on the booster vaccination based on the data. Especially, antibody testing and vaccination in healthcare workers may be necessary to prevent the spread of measles in medical insutitutions, and further discussion is needed regarding specific testing methods, and the timing and frequency of test and vaccination.

Adolescent ; Biomarkers ; Blood Pressure ; Body Image ; Body Mass Index ; Calcium ; Education ; Female ; Food Labeling ; Humans ; Korea ; Nutrition Assessment ; Nutrition Surveys ; Obesity ; Thinness ; Triglycerides ; Waist Circumference ; Weight Loss

Familial hypophosphatemic rickets (FHR) is a disorder characterized by phosphate wasting and hypophosphatemia due to defects in renal phosphate transport regulation. There are 4 known inherited forms of FHR that differ in their molecular causes. Very few studies have been conducted that focused on the molecular analysis of FHR in Koreans. Eighteen mutations of the PHEX gene have been identified to this date in Korea. Herein, we report the clinical case of a 24-month-old boy presenting with bowed legs and short stature. The biochemical profile showed hypophosphatemia with decreased tubular reabsorption of phosphate. Several family members were identified with short stature and genu varum. Therefore, he was diagnosed with FHR. To identify the molecular causes of FHR, we performed targeted gene panel sequencing and found a novel hemizygous missense variant, c.1949T>C (p.Leu650Pro), in the PHEX gene. This variant was also detected in the boy’s mother who exhibited genu varum and short stature.

Background: The fatality rate of patients with coronavirus disease 2019 (COVID-19) varies among countries owing to demographics, patient comorbidities, surge capacity of healthcare systems, and the quality of medical care. We assessed the clinical outcomes of patients with COVID-19 during the first wave of the epidemic in Korea. Methods: Using a modified World Health Organization clinical record form, we obtained clinical data for 3,060 patients with COVID-19 treated at 55 hospitals in Korea. Disease severity scores were defined as: 1) no limitation of daily activities; 2) limitation of daily activities but no need for supplemental oxygen; 3) supplemental oxygen via nasal cannula; 4) supplemental oxygen via facial mask; 5) non-invasive mechanical ventilation; 6) invasive mechanical ventilation; 7) multi-organ failure or extracorporeal membrane oxygenation therapy; and 8) death. Recovery was defined as a severity score of 1 or 2, or discharge and release from isolation. Results: The median age of the patients was 43 years of age; 43.6% were male. The median time from illness onset to admission was 5 days. Of the patients with a disease severity score of 3–4 on admission, 65 (71.5%) of the 91 patients recovered, and 7 (7.7%) died due to illness by day 28. Of the patients with disease severity scores of 5–7, 7 (19.5%) of the 36 patients recovered, and 8 (22.2%) died due to illness by day 28. None of the 1,324 patients who were < 50 years of age died; in contrast, the fatality rate due to illness by day 28 was 0.5% (2/375), 0.9% (2/215), 5.8% (6/104), and 14.0% (7/50) for the patients aged 50–59, 60–69, 70–79, and ≥ 80 years of age, respectively. Conclusion In Korea, almost all patients of < 50 years of age with COVID-19 recovered without supplemental oxygen. In patients of ≥ 50 years of age, the fatality rate increased with age, reaching 14% in patients of ≥ 80 years of age.

OBJECTIVE: We investigated the opinions of experts to identify problems and prepare an improvement plan when applying the Korean Triage and Acuity Scale (KTAS) to pediatric patients in the emergency department. METHODS: The experts comprised 15 researchers at a pediatric emergency center designated by the Ministry of Health and Welfare and research team members of the Korean Society of Pediatric Emergency Medicine. The first survey was an open-ended question about the problems, application results, and remedies of applying KTAS to children through e-mail. The problems were categorized by topic, and degree of agreement was presented using a 9-point Likert scale. RESULTS: In the first survey, 67% of experts participated and 18 problems were identified. In the second survey, 73% of experts participated and eight problems were identified in four categories, validity, reliability, feasibility and other opinions. All experts pointed out that resources were not considered during pediatric triage in the KTAS. Ninety-one percent of experts said that peak expiratory flow rate measurement and Glasgow Coma Scale evaluation were unlikely to be feasible. Moreover, 91% experts were concerned that the triage level could be distorted if KTAS was interlocked with medical costs. Eighty-two percent of the respondents pointed to the high triage result of febrile children and the difference in pain score between the evaluators, etc. CONCLUSION: Based on the problems pointed out by experts and the reality of Korea's emergency departments, it is necessary to consider revision of KTAS for children.
Child ; Delphi Technique ; Electronic Mail ; Emergencies ; Emergency Medicine ; Emergency Service, Hospital ; Glasgow Coma Scale ; Humans ; Peak Expiratory Flow Rate ; Surveys and Questionnaires ; Triage

PURPOSE: This study aimed to explain what are the experiences of patients with renal disease who are just begun hemodialysis in the end-stage. METHODS: The data were collected from February to December in 2017 through individual in-depth interviews using open-ended questions. For data analysis, a phenomenological method suggested by Colaizzi was applied. A total of 8 hemodialysis patients with end-stage renal disease (ESRD) participated in this study. RESULTS: According to the analysis, five theme clusters emerged: ‘I go into darkness’, ‘Being disappearing from others’, ‘Baby bird living with love’, ‘Dawn in darkness’ and ‘A life longing for the absolute’. CONCLUSION: Patients undergoing hemodialysis experienced fear and anxiety at the beginning of hemodialysis. Therefore, counseling and social supports were needed for patients with ESRD in their early stage of hemodialysis. In addition, a multidisciplinary education program should be implemented in the future research. It may help to overcome for the patients who are experiencing complicated health problems in their early stage of hemodialysis treatment.
Anxiety ; Birds ; Counseling ; Education ; Humans ; Kidney Failure, Chronic* ; Methods ; Qualitative Research ; Renal Dialysis* ; Statistics as Topic