Background: As nationwide government-led whole-genome sequencing (WGS) projects progress, optimizing the clinical integration of large-scale WGS results is crucial. We explored how the initial analysis from Korea’s First WGS Pilot Study for Rare Diseases was applied in clinical practice, and then we reanalyzed the data comprehensively at Samsung Medical Center (SMC) Seoul, Korea. Methods: A prospective cohort study designed to collect WGS data under a Korean national initiative was conducted from August 2020 to December 2021. We focused on patients with rare diseases recruited from 16 university hospitals. The participants included 5,000 individuals (2,200 probands and 2,800 family members). The initial WGS data and diagnostic reference reports (from 682 probands and 484 family members), generated based on the First Korean WGS Pilot Study for Rare Diseases, were subsequently reanalyzed by SMC. Results: The initial analysis of the First Korean WGS Pilot Study data revealed a diagnostic rate of 17%. Upon receiving these results, the SMC conducted two rounds of reanalysis, increasing the diagnostic rate from 15% in the first analysis, to 18% in the second, and finally to 24% in the third (P = 1.6 × 10 −5 ). Key factors in improving the genetic diagnosis included increased detection of novel (likely) pathogenic variants (P = 1.0 × 10 −4 ), improved diagnostic rates with larger family recruitment (P = 0.004), and refined clinical information for more precise genotype–phenotype correlation analysis (40%). Conclusions Although national WGS projects lay a foundation for rare disease diagnosis, hospital-level reanalysis and multidisciplinary collaborations are crucial for optimizing diagnostic outcomes.

Purpose: The purpose of this study was to explore and assess the experiences of cancer patients and their caregivers who had been admitted to comprehensive nursing care service wards. Methods: Data were collected from 10 patients and 10 caregivers by in-depth interviews. The data were analyzed using content analysis of Downe-Wamboldt. Results: Three categories and seven subcategories were extracted. 1) Realizing institutional limitations of comprehensive nursing care service: ‘Wishing for precise operating systems based on patient severity,’ ‘Anticipating active caregiver participation in treatment process,’ ‘Requiring a countermeasure for safety accidents,’ 2) Professional nursing service which provides relief: ‘Patient-centered professional nursing service,’ ‘Inpatient service that provides relief for patients and caregivers,’ 3) Anticipating continuous use of the service: ‘Inpatient service which users are willing to reuse,’ ‘Wishing for expansion and reinforcement of the service.’ Conclusion Cancer patients and their caregivers experienced institutional limitations while satisfied with professional nursing service and willing to reuse the service. To improve this situation, institutional support such as separate wards for severe patients, measures for active caregiver participation and prevention of safety accidents, and adequate staffing would be helpful for relatively severe level cancer patients and their caregivers.

Purpose: The purpose of this study was to explore and assess the experiences of cancer patients and their caregivers who had been admitted to comprehensive nursing care service wards. Methods: Data were collected from 10 patients and 10 caregivers by in-depth interviews. The data were analyzed using content analysis of Downe-Wamboldt. Results: Three categories and seven subcategories were extracted. 1) Realizing institutional limitations of comprehensive nursing care service: ‘Wishing for precise operating systems based on patient severity,’ ‘Anticipating active caregiver participation in treatment process,’ ‘Requiring a countermeasure for safety accidents,’ 2) Professional nursing service which provides relief: ‘Patient-centered professional nursing service,’ ‘Inpatient service that provides relief for patients and caregivers,’ 3) Anticipating continuous use of the service: ‘Inpatient service which users are willing to reuse,’ ‘Wishing for expansion and reinforcement of the service.’ Conclusion Cancer patients and their caregivers experienced institutional limitations while satisfied with professional nursing service and willing to reuse the service. To improve this situation, institutional support such as separate wards for severe patients, measures for active caregiver participation and prevention of safety accidents, and adequate staffing would be helpful for relatively severe level cancer patients and their caregivers.

Purpose: The purpose of this study was to explore and assess the experiences of cancer patients and their caregivers who had been admitted to comprehensive nursing care service wards. Methods: Data were collected from 10 patients and 10 caregivers by in-depth interviews. The data were analyzed using content analysis of Downe-Wamboldt. Results: Three categories and seven subcategories were extracted. 1) Realizing institutional limitations of comprehensive nursing care service: ‘Wishing for precise operating systems based on patient severity,’ ‘Anticipating active caregiver participation in treatment process,’ ‘Requiring a countermeasure for safety accidents,’ 2) Professional nursing service which provides relief: ‘Patient-centered professional nursing service,’ ‘Inpatient service that provides relief for patients and caregivers,’ 3) Anticipating continuous use of the service: ‘Inpatient service which users are willing to reuse,’ ‘Wishing for expansion and reinforcement of the service.’ Conclusion Cancer patients and their caregivers experienced institutional limitations while satisfied with professional nursing service and willing to reuse the service. To improve this situation, institutional support such as separate wards for severe patients, measures for active caregiver participation and prevention of safety accidents, and adequate staffing would be helpful for relatively severe level cancer patients and their caregivers.

The survival rate of children admitted in the neonatal intensive care unit (NICU) after birth is on the increase; hence, proper evaluation and care of their neurodevelopment has become an important issue. Neurodevelopmental assessments of individual domains regarding motor, language, cognition, and sensory perception are crucial in planning prompt interventions for neonates requiring immediate support and rehabilitation treatment. These assessments are essential for identifying areas of weakness and designing targeted interventions to improve future functional outcomes and the quality of lives for both the infants and their families. However, initial stratification of risk to select those who are in danger of neurodevelopmental disorders is also important in terms of cost-effectiveness. Efficient and robust functional evaluations to recognize early signs of developmental disorders will help NICU graduates receive interventions and enhance functional capabilities if needed. Several age-dependent, domain-specific neurodevelopmental assessment tools are available; therefore, this review summarizes the characteristics of these tools and aims to develop multidimensional, standardized, and regular follow-up plans for NICU graduates in Korea.

Objectives: It is important that inflammatory bowel disease (IBD) patients adhere to their prescribed medication regimens to avoid the repeat exacerbations, complications, or surgeries associated with this disorder. However, there are few studies on medication adherence in patients with IBD, especially in Asian populations. So, we analyzed the factors associated with medication adherence in Korean IBD patients. Methods: Patients who had been diagnosed with Crohn’s disease (CD) or ulcerative colitis (UC) more than 6 months previously and receiving oral medications for IBD were enrolled. Medication adherence was measured using the Medical Adherence Reporting Scale (MARS-5), a self-reported medication adherence measurement tool. Results: Among 207 patients in the final study population, 125 (60.4%) had CD and 134 (64.7%) were men. The mean age was 39.63 years (SD, 13.16 years) and the mean disease duration was 10.09 years (SD, 6.33 years). The mean medication adherence score was 22.46 (SD, 2.86) out of 25, and 181 (87.4%) patients had score of 20 or higher.In multiple linear regression analysis, self-efficacy (β=0.341, P<0.001) and ≥3 dosing per day (β=–0.192 P=0.016) were revealed to be significant factors associated with medication adherence. Additionally, there was a positive correlation between self-efficacy and medication adherence (r=0.312, P<0.001). However, disease related knowledge, depression, and anxiety were not significantly associated with medication adherence. Conclusion To improve medication adherence among patients with IBD, a reduction in the number of doses per day and an improved self-efficacy will be helpful.

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.

Background/Aims: Minor complications that might occur after colonoscopy, including abdominal discomfort, bloating, diarrhea, and constipation, could a barrier for patients to undergo a screening colonoscopy. In this study, we aimed to identify the effect of gut microbial diversity and composition on minor complications after colonoscopy. Methods: A total of 24 healthy subjects provided their stools before bowel preparation and on the 7th and 28th day after colonoscopy. On the 7th day after colonoscopy, the presence of minor complications was investigated using a questionnaire. We divided patients into 2 groups, the no complication group and complications group. The fecal microbial diversity, distribution, and composition were then compared between the groups. Results: Five of the 24 subjects reported that they had undergone minor complications after colonoscopy. Most of the symptoms were mild and self-limited, but 1 patient needed medication. Interestingly, the Firmicutes/Bacteroidetes ratio of the initial stool samples before bowel preparation in the complication group was significantly higher than that in no complication group. After bowel preparation, the Firmicutes/Bacteroidetes ratio of the complication group decreased, but not in the no complication group. The microbial diversity of the no complication group decreased after bowel preparation, but not in the complication group. Conclusions The gut microbial composition and diversity before and after bowel preparation could be considered as one of the causes of minor complications after colonoscopy. Further studies are needed to delineate the role of gut microbiota in the occurrence of minor complications after colonoscopy.

Background/Aims: Minor complications that might occur after colonoscopy, including abdominal discomfort, bloating, diarrhea, and constipation, could a barrier for patients to undergo a screening colonoscopy. In this study, we aimed to identify the effect of gut microbial diversity and composition on minor complications after colonoscopy. Methods: A total of 24 healthy subjects provided their stools before bowel preparation and on the 7th and 28th day after colonoscopy. On the 7th day after colonoscopy, the presence of minor complications was investigated using a questionnaire. We divided patients into 2 groups, the no complication group and complications group. The fecal microbial diversity, distribution, and composition were then compared between the groups. Results: Five of the 24 subjects reported that they had undergone minor complications after colonoscopy. Most of the symptoms were mild and self-limited, but 1 patient needed medication. Interestingly, the Firmicutes/Bacteroidetes ratio of the initial stool samples before bowel preparation in the complication group was significantly higher than that in no complication group. After bowel preparation, the Firmicutes/Bacteroidetes ratio of the complication group decreased, but not in the no complication group. The microbial diversity of the no complication group decreased after bowel preparation, but not in the complication group. Conclusions The gut microbial composition and diversity before and after bowel preparation could be considered as one of the causes of minor complications after colonoscopy. Further studies are needed to delineate the role of gut microbiota in the occurrence of minor complications after colonoscopy.

PURPOSE: While there is an urgent need for diagnosis and therapeutic intervention in patients with primary immunodeficiency diseases (PIDs), current genetic tests have drawbacks. We retrospectively reviewed the usefulness of flow cytometry (FCM) as a quick tool for immunophenotyping and functional assays in patients suspected to have PIDs at a single tertiary care institute.METHODS: Between January 2001 and June 2018, patients suspected of having PIDs were subjected to FCM tests, including lymphocyte subset analysis, detection of surface- or intracellular-target proteins, and functional analysis of immune cells, at Samsung Medical Center, Seoul, Korea. The genetic diagnosis was performed using Sanger or diagnostic exome sequencing.RESULTS: Of 60 patients diagnosed with definite or probable PID according to the European Society of Immune Deficiencies criteria, 24 patients were provided with useful information about immunological dysfunction after initial FCM testing. In 10 patients, the PID diagnosis was based on abnormal findings in FCM testing without genetic tests. The FCM findings provided strong evidence for the diagnosis of severe combined immunodeficiency (n = 6), X-linked chronic granulomatous diseases (CGD) (n = 6), leukocyte adhesion deficiency type 1 (n = 3), X-linked agammaglobulinemia (n = 11), autoimmune lymphoproliferative syndrome-FASLG (n = 1), and familial hemophagocytic lymphohistiocytosis type 2 (n = 1), and probable evidence for autosomal recessive-CGD (n = 2), autosomal dominant-hyper-immunoglobulin E (IgE)-syndrome (n = 1), and STAT1 gain-of-function mutation (n = 1). In PIDs derived from PIK3CD (n = 2), LRBA (n = 2), and CTLA4 mutations (n = 3), the FCM test provided useful evidence of immune abnormalities and a tool for treatment monitoring.CONCLUSIONS: The initial application of FCM, particularly with known protein targets on immune cells, would facilitate the timely diagnosis of PIDs and thus would support clinical decisions and improve the clinical outcome.
Agammaglobulinemia ; Diagnosis ; Exome ; Flow Cytometry ; Genetic Testing ; Granulomatous Disease, Chronic ; Humans ; Immunophenotyping ; Korea ; Leukocytes ; Lymphocyte Subsets ; Lymphohistiocytosis, Hemophagocytic ; Phenotype ; Retrospective Studies ; Seoul ; Severe Combined Immunodeficiency ; Tertiary Healthcare