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BACKGROUND/OBJECTIVES@#Probiotics have been suggested as potent modulators of agerelated disorders in immunological functions, yet little is known about sex-dependent effects of probiotic supplements. Therefore, we aimed to investigate sex-dependent effects of probiotics on profiles of the gut microbiota and peripheral immune cells in healthy older adults. @*SUBJECTS/METHODS@#In a randomized, double-blind, placebo-controlled, multicenter trial, healthy elderly individuals ≥ 65 yrs old were administered probiotic capsules (or placebo) for 12 wk. Gut microbiota was analyzed using 16S rRNA gene sequencing and bioinformatic analyses. Peripheral immune cells were profiled using flow cytometry for lymphocytes (natural killer, B, CD4 + T, and CD8 + T cells), dendritic cells, monocytes, and their subpopulations. @*RESULTS@#Compared with placebo, phylum Firmicutes was significantly reduced in the probiotic group in women, but not in men. At the genus level, sex-specific responses included reductions in the relative abundances of pro-inflammatory gut microbes, including Catabacter and unclassified_Coriobacteriales, and Burkholderia and unclassified Enterobacteriaceae, in men and women, respectively. Peripheral immune cell profiling analysis revealed that in men, probiotics significantly reduced the proportions of dendritic cells and CD14 + CD16 - monocytes; however, these effects were not observed in women. In contrast, the proportion of total CD4 + T cells was significantly reduced in women in the probiotic group. Additionally, serum lipopolysaccharide-binding protein levels showed a decreasing tendency that were positively associated with changes in gut bacteria, including Catabacter (ρ = 0.678, P < 0.05) and Burkholderia (ρ = 0.673, P < 0.05) in men and women, respectively. @*CONCLUSIONS@#These results suggest that probiotic supplementation may reduce the incidence of inflammation-related diseases by regulating the profiles of the gut microbiota and peripheral immune cells in healthy elders in a sex-specific manner.
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BACKGROUND/OBJECTIVES@#Obesity is a major risk factor for metabolic syndrome, a global public health problem. Mentha canadensis (MA), a traditional phytomedicine and dietary herb used for centuries, was the focus of this study to investigate its effects on obesity.MATERIALS/METHODS: Thirty-five male C57BL/6J mice were randomly divided into 2 groups and fed either a normal diet (ND, n = 10) or a high-fat diet (HFD, n = 25) for 4 weeks to induce obesity. After the obesity induction period, the HFD-fed mice were randomly separated into 2 groups: one group continued to be fed HFD (n = 15, HFD group), while the other group was fed HFD with 1.5% (w/w) MA ethanol extract (n = 10, MA group) for 13 weeks. @*RESULTS@#The results showed that body and white adipose tissue (WAT) weights were significantly decreased in the MA-supplemented group compared to the HFD group.Additionally, MA supplementation enhanced energy expenditure, leading to improvements in plasma lipids, cytokines, hepatic steatosis, and fecal lipids. Furthermore, MA supplementation regulated lipid-metabolism-related enzyme activity and gene expression, thereby suppressing lipid accumulation in the WAT and liver. @*CONCLUSIONS@#These findings indicate that MA has the potential to improve diet-induced obesity and its associated complications, including adiposity, dyslipidemia, hepatic steatosis, and inflammation.
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Background@#Orthotopic liver transplantation is the only option for patients with end-stage liver disease and hepatocellular carcinoma. Post-transplant immunosuppressive therapy is important to prevent graft failure. We investigated the effectiveness of tacrolimus (FK506) and their mechanisms for liver transplant immune tolerance in an outbred rat LT model. @*Results@#To investigate the therapeutic effect of the FK506 on outbred rat LT model, FK506 and postoperative therapy were administered subcutaneously once or twice daily to transplanted rats. Histopathological and immunohistochemical analyses were conducted for all groups. The regulation of inflammatory cytokine signaling in the spleen was analyzed by flow cytometry. FK506 attenuated allograft rejection and increased survival in rat orthotopic liver transplantation models. The FK506-treated group had reduced serum levels of alanine aminotransferase, aspartate aminotransferase and alkaline phosphatase. Furthermore, FK506 decreased the expression of inflammatory cytokines and the activation of pathogenic Th1 and Th17 cells in the liver. @*Conclusions@#Taken together, we revealed that FK506 ameliorated strong allograft rejection in outbred liver transplantation model by anti-inflammatory effect and inhibitory peroperty of pathogenic T cells.
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We experienced a case of disseminated Staphylococcus aureus infection with bacterial pericarditis that progressed to septic shock and multiorgan failure despite pericardiocentesis and surgical removal of the original abscess with intensive antibiotic therapy. We report this case because of the patient’s very rare and remarkable echocardiographic findings and highly turbid pericardial effusion.
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Objective@#Cine magnetic resonance imaging (MRI) has emerged as a noninvasive method to quantitatively assess bowel motility. However, its accuracy in measuring various degrees of small bowel motility has not been extensively evaluated. We aimed to draw a quantitative small bowel motility score from cine MRI and evaluate its performance in a population with varying degrees of small bowel motility. @*Materials and Methods@#A total of 174 participants (28.5 ± 7.6 years; 135 males) underwent a 22-second-long cine MRI sequence (2-dimensional balanced turbo-field echo; 0.5 seconds per image) approximately 5 minutes after being intravenously administered 10 mg of scopolamine-N-butyl bromide to deliberately create diverse degrees of small bowel motility. In a manually segmented area of the small bowel, motility was automatically quantified using a nonrigid registration and calculated as a quantitative motility score. The mean value (MV) of motility grades visually assessed by two radiologists was used as a reference standard. The quantitative motility score’s correlation (Spearman’s ρ) with the reference standard and performance (area under the receiver operating characteristics curve [AUROC], sensitivity, and specificity) for diagnosing adynamic small bowel (MV of 1) were evaluated. @*Results@#For the MV of the quantitative motility scores at grades 1, 1.5, 2, 2.5, and 3, the mean ± standard deviation values were 0.019 ± 0.003, 0.027 ± 0.010, 0.033 ± 0.008, 0.032 ± 0.009, and 0.043 ± 0.013, respectively. There was a significant positive correlation between the quantitative motility score and the MV (ρ = 0.531, P < 0.001). The AUROC value for diagnosing a MV of 1 (i.e., adynamic small bowel) was 0.953 (95% confidence interval, 0.923–0.984). Moreover, the optimal cutoff for the quantitative motility score was 0.024, with a sensitivity of 100% (15/15) and specificity of 89.9% (143/159). @*Conclusion@#The quantitative motility score calculated from a cine MRI enables diagnosis of an adynamic small bowel, and potentially discerns various degrees of bowel motility.
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Background and Objectives@#Inherited arrhythmia (IA) is a more common cause of sudden cardiac death in Asian population, but little is known about the genetic background of Asian IA probands. We aimed to investigate the clinical characteristics and analyze the genetic underpinnings of IA in a Korean cohort. @*Methods@#This study was conducted in a multicenter cohort of the Korean IA Registry from 2014 to 2017. Genetic testing was performed using a next-generation sequencing panel including 174 causative genes of cardiovascular disease. @*Results@#Among the 265 IA probands, idiopathic ventricular fibrillation (IVF) and Brugada Syndrome (BrS) was the most prevalent diseases (96 and 95 cases respectively), followed by long QT syndrome (LQTS, n=54). Two-hundred-sixteen probands underwent genetic testing, and 69 probands (31.9%) were detected with genetic variant, with yield of pathogenic or likely pathogenic variant as 6.4%. Left ventricular ejection fraction was significantly lower in genotype positive probands (54.7±11.3 vs. 59.3±9.2%, p=0.005). IVF probands showed highest yield of positive genotype (54.0%), followed by LQTS (23.8%), and BrS (19.5%). @*Conclusions@#There were significant differences in clinical characteristics and genetic yields among BrS, LQTS, and IVF. Genetic testing did not provide better yield for BrS and LQTS. On the other hand, in IVF, genetic testing using multiple gene panel might enable the molecular diagnosis of concealed genotype, which may alter future clinical diagnosis and management strategies.
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Purpose@#The objective of this study was to develop a structural model to assess and forecast the quality of life in climacteric women, focusing the concept of salutogenesis. @*Methods@#Participants were sourced from two urban locations through convenience sampling. Data collection involved questionnaires, analyzed using SPSS 21.0 and AMOS 20.0. Assessment instruments comprised the Menopause Rating Scale, New General Self-Efficacy Scale, Sense of Coherence Scale, and the Korean version of the WHOQOL-BREF. @*Results@#The fit indices of the proposed model met recommended standards. The sense of coherence, menopausal symptoms, and self-efficacy accounted for 58% of the quality of life variance, with sense of coherence emerging as the most significant predictor. Menopausal symptoms directly and negatively affected quality of life (β=-0.30, p<0.001), and had an indirect influence through self-efficacy and integration (β=-0.30, p<0.001). Self-efficacy positively influenced quality of life directly (β=0.27, p<0.001) and indirectly through integration (β=0.14, p=0.001). Integration positively affected quality of life directly (β=0.36, p<0.001). @*Conclusion@#Interventions to bolster sense of coherence are crucial for enhancing the quality of life among climacteric women.
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Background and Objectives@#For T1–T2 early glottic cancer, single modality treatment with radiation therapy (RT) or transoral laser microsurgery is the standard therapeutic option. However, the choice between surgery and RT has been debated for decades. Even though patient selection bias for each modality inherently exists in the retrospective study, this study aimed to compare the oncologic outcomes of the actual treatment of these patients between surgery-based treatment and RT.Materials and Method The medical records of 417 patients with T1–T2N0 glottic squamous cell carcinoma were reviewed who were treated at our institution between 1995 and 2014. The patients were divided into two groups; primarily surgery-based treatment (OP, n=209) or RT (n=208). @*Results@#In the T1 stage, local failure, overall survival (OS), and disease-free survival (DFS) rates were not different between the OP and RT groups. However, in the T2 stage, the local failure rate was higher in the RT group (p65), presence of multiple primary cancer, and treatment modality were significant variables influencing OS and DFS. @*Conclusion@#Surgery-based treatment provided better local control rates, DFS, and OS in patients with T1–T2N0 glottic SCC. In the T1 stage, treatment outcomes were similar between OP and RT groups. In the T2 stage, OP showed better results than RT, suggesting that refined strategies are required to improve the oncologic outcomes of RT for T2 glottic cancer.
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Objectives@#This research probes into the characteristics of modern type depression (MTD) in South Korea, drawing parallels to Japan’s hikikomori state. It aims to bridge cultural value gaps and highlight its significance in South Korea, given the observed reclusive youth behaviors. @*Methods@#Participants undertook a semi-structured interview assessing hikikomori tendencies and MTD. Also, self-reports were done using the 25-item Hikikomori Questionnaire (HQ-25), 22-item Tarumi’s Modern-Type Depression Trait Scale: Avoidance of Social Roles, Complaint, and Low Self-Esteem (TACS-22), Patient Health Questionnaire-9 (PHQ-9), Beck Depression Inventory-II (BDI-II), Young’s Internet Addiction Test (YIAT), Smartphone Addiction ScaleShort form Version (SAS-SV), Revised UCLA Loneliness Scale (RULS), Lubben Social Network Scale (LSNS-6). Scores were analyzed by group (MTD, control) using and logistic regression was done. Additional analysis was done by group (modern type with hikikomori and modern type without hikikomori). @*Results@#Of 59 participants, 29 had MTD. In both groups, age and sex were matched with differences in education years. The MTD group contained 14 hikikomori individuals. Logistic regression identified the HQ-25 as a significant predictor for MTD. Notably, specific components like “low self-esteem” in TACS-22 and “isolation” in the HQ-25 significantly influenced MTD status. HQ-25 and RULS were significantly different between modern type with hikikomori and modern type without hikikomori. @*Conclusions@#Using Japanese diagnostic criteria, this study illuminated MTD in Korean patients. The findings underscore isolation and low self-esteem predicted diagnosis of MTD. As MTD shares common pathological traits with hikikomori, the therapeutic interventions are important in Korea.
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Purpose@#We present a modified, closed-loop scleral fixation technique. We inserted a 4-eyelet intraocular lens (IOL) into the anterior chamber prior to fixation. We investigated the clinical results. @*Methods@#We retrospectively reviewed 39 eyes (39 patients) that underwent modified four-point scleral fixation of an inserted lens in our center from May 2019 to June 2022. The surgical procedure features conjunctival peritomy, 4-eyelet IOL insertion, eyeball penetration using a 9-0 polypropylene needle, eyelet placement using an ab externo technique to form a continuous loop, centering of the optic, and tying of a knot. We compared preoperative and 6-month postoperative changes in best-corrected visual acuity (BCVA), intraocular pressure, and refraction errors, and described postoperative complications. @*Results@#The mean patient age was 62 years. The indications for surgery included complicated cataracts (20.5%), aphakia (20.5%), staged surgery for complicated cataract (12.8%), non-traumatic IOL dislocation (30.8%), traumatic IOL dislocation (12.8%), and crystalline lens dislocation (5.1%). The postoperative BCVA (0.40 logarithm of the minimum angle of resolution [logMAR]) was significantly better than the preoperative BCVA (0.69 logMAR) (p = 0.018). The postoperative spherical equivalent and the target diopter measurement were in high agreement (p = 0.002, intraclass correlation coefficient = 0.616). All of ocular hypertension (7.7%), hypotony (5.1%), bullous keratopathy (5.1%), and macular edema (5.1%) were noted, but 78% of the conditions improved with short-term medication. There was no re-dislocation of a fixated IOL. @*Conclusions@#Our surgical technique simply and rapidly treats aphakia. Optic repositioning was easy, the IOL stability high, and the risk of complications during IOL fixation low.
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Background@#/Aim: Despite the increasing proportion of elderly patients with hepatocellular carcinoma (HCC) over time, treatment efficacy in this population is not well established. @*Methods@#Data collected from the Korean Primary Liver Cancer Registry, a representative cohort of patients newly diagnosed with HCC in Korea between 2008 and 2017, were analyzed. Overall survival (OS) according to tumor stage and treatment modality was compared between elderly and non-elderly patients with HCC. @*Results@#Among 15,186 study patients, 5,829 (38.4%) were elderly. A larger proportion of elderly patients did not receive any treatment for HCC than non-elderly patients (25.2% vs. 16.7%). However, OS was significantly better in elderly patients who received treatment compared to those who did not (median, 38.6 vs. 22.3 months; P0.05). After IPTW, in intermediate-stage HCC, surgery (median, 66.0 vs. 90.3 months) and transarterial therapy (median, 36.5 vs. 37.2 months), and in advanced-stage HCC, transarterial (median, 25.3 vs. 26.3 months) and systemic therapy (median, 25.3 vs. 26.3 months) yielded comparable OS between the elderly and non-elderly HCC patients (all P>0.05). @*Conclusions@#Personalized treatments tailored to individual patients can improve the prognosis of elderly patients with HCC to a level comparable to that of non-elderly patients.
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Background@#Nirmatrelvir-ritonavir is highly effective in preventing severe coronavirus disease 2019 (COVID-19) in high-risk patients with mild-to-moderate severity. However, real-world performance data are limited, and the drug is not so acceptable to the COVID-19 patients at high risk who need it in Korea. @*Methods@#To evaluate the effectiveness of nirmatrelvir-ritonavir, we conducted a propensity score-matched retrospective cohort study on patients with mild-to-moderate COVID-19 at high risk for a severe disease who were hospitalized at four hospitals in South Korea from February 2022 to April 2022. A total of 236 patients in the treatment group (administered nirmatrelvir-ritonavir) and 236 in the matched control group (supportive care only) were analyzed for the primary outcome, i.e., the time to oxygen support-free survival. The secondary outcome was a composite result of disease progression. The reason for not prescribing nirmatrelvir-ritonavir to the indicated patients was also investigated. @*Results@#The treatment group showed significantly longer oxygen support-free survival than the matched control group (adjusted hazard ratio [aHR], 0.07; 95% confidence interval [CI], 0.01–0.31; P < 0.001). Multivariate Cox regression analysis showed that age (aHR, 1.03; 95% CI, 1.00–1.07), National Early Warning Score-2 at admission (aHR, 1.36; 95% CI, 1.08–1.71), nirmatrelvir-ritonavir treatment, female sex (aHR, 0.37; 95% CI, 0.15–0.88), and time from symptom onset to admission (aHR, 0.67; 95% CI, 0.48–0.95) were significantly associated with oxygen therapy. However, none of the factors were related to the composite outcome. In the unmatched control group, 19.9% of 376 patients had documented explanations for nirmatrelvir-ritonavir non-prescription, and 44.0% of these were due to contraindication criteria. In the treatment group, 10.9% of patients discontinued the medication primarily because of adverse events (71.4%), with gastrointestinal symptoms being the most common (50.0%). @*Conclusion@#Nirmatrelvir-ritonavir treatment significantly reduced oxygen therapy requirements in high-risk patients with COVID-19 during the omicron variant surge in South Korea. Physicians are encouraged to consider the active use of nirmatrelvir-ritonavir and to be watchful for gastrointestinal symptoms during medication.
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Background@#A methodology for comprehensively and reasonably measuring the burden of disease due to adverse events has yet to be clearly established. In this study, a new and systematic method for measuring the burden of disease due to adverse events was tested by utilizing the results of a medical record review, which is commonly used as a gold standard. @*Methods@#Using the characteristics of preventable adverse events identified in the 2019 Patient Safety Incidents Inquiry (PSII), conducted to monitor the level of patient safety in Korea accurately, the resulting disability-adjusted life years (DALYs) and economic costs were estimated. DALYs were calculated as the sum of the years lived with a disability for patients who suffered permanent disability, or more, due to preventable adverse events, and the years of life lost due to premature mortality was calculated for patients who died due to preventable adverse events. The economic cost was calculated using the main diagnostic codes of patients who suffered preventable adverse events, identified as prolonged hospitalization in PSII, and the average medical cost by disease category and age group. @*Results@#Estimates of DALYs due to preventable adverse events were 1,114.4 DALYs per 100,000 population for the minimum standard and 1,658.5 DALYs per 100,000 population for the maximum standard. Compared to the 2015 Korea Burden of Disease results, the ranking of DALYs due to preventable adverse events was sixth for the minimum standard and third for the maximum standard. The annual medical cost of adverse events in 2016 was estimated to be approximately Korean Republic Won (KRW) 870 billion (700 million US dollars). Medical expenses due to preventable adverse events were calculated to be approximately KRW 150 billion (120 million US dollars) as a minimum standard and approximately KRW 300 billion (240 million US dollars) as a maximum standard. @*Conclusion@#If this more standard method of systematically calculating the disease burden due to adverse events is used, it will be possible to compare the size of the patient safety problem with that of other diseases. The results of this study indicate that we still need to pay more attention to the issue of patient safety.
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Background@#Advances in neuroscience and neurotechnology provide great benefits to humans though unknown challenges may arise. We should address these challenges using new standards as well as existing ones. Novel standards should include ethical, legal, and social aspects which would be appropriate for advancing neuroscience and technology.Therefore, the Korea Neuroethics Guidelines were developed by stakeholders related to neuroscience and neurotechnology, including experts, policy makers, and the public in the Republic of Korea.Method: The guidelines were drafted by neuroethics experts, were disclosed at a public hearing, and were subsequently revised by opinions of various stakeholders. @*Results@#The guidelines are composed of twelve issues; humanity or human dignity, individual personality and identity, social justice, safety, sociocultural prejudice and public communication, misuse of technology, responsibility for the use of neuroscience and technology, specificity according to the purpose of using neurotechnology, autonomy, privacy and personal information, research, and enhancement. @*Conclusion@#Although the guidelines may require a more detailed discussion after future advances in neuroscience and technology or changes in socio-cultural milieu, the development of the Korea Neuroethics Guidelines is a milestone for the scientific community and society in general for the ongoing development in neuroscience and neurotechnology.
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Background@#Monitoring mortality trends can help design ways to improve survival, but observation of national mortality trends in critically ill children is lacking for the Korean population Methods: We analyzed the incidence and mortality trends of children younger than 18 years admitted to an intensive care unit (ICU) from 2012 to 2018 using the Korean National Health Insurance database. Neonates and neonatal ICU admissions were excluded. Multivariable logistic regression analyses were performed to estimate the odds ratio of in-hospital mortality according to admission year. Trends in incidence and in-hospital mortality of subgroups according to admission department, age, presence of intensivists, admissions to pediatric ICU, mechanical ventilation, and use of vasopressors were evaluated. @*Results@#The overall mortality of critically ill children was 4.4%. There was a significant decrease in mortality from 5.5% in 2012 to 4.1% in 2018 (Pfor trend < 0.001). The incidence of ICU admission in children remained around 8.5/10,000 population years (Pfor trend = 0.069). In-hospital mortality decreased by 9.2% yearly in adjusted analysis (P < 0.001). The presence of dedicated intensivists (Pfor trend < 0.001, mortality decrease from 5.7% to 4.0%) and admission to pediatric ICU (Pfor trend < 0.001, mortality decrease from 5.0% to 3.2%) were associated with significant decreasing trends in mortality. @*Conclusion@#Mortality among critically ill children improved during the study period, and the improving trend was prominent in children with high treatment requirements. Varying mortality trends, according to ICU organizations, highlight that advances in medical knowledge should be supported structurally.
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Background@#We aimed to analyze the risk factors for sudden death after diagnosis of coronavirus disease 2019 (COVID-19) in South Korea and to provide evidence for informing prevention and control interventions for patients at risk of sudden death. @*Methods@#We included 30,302 COVID-19 related deaths registered in the patient management information system (Central Disease Control Headquarters) between January 1, 2021, and December 15, 2022. We collected their epidemiological data recorded by the reporting city, province, or country. We performed multivariate logistic regression analysis to identify risk factors for sudden death after diagnosis of COVID-19. @*Results@#Among the 30,302 deaths, there were 7,258 (24.0%) and 23,044 (76.0%) sudden and non-sudden deaths, respectively. Sudden death means a person who died within 2 days of diagnosis and who did not receive inpatient treatment. Underlying condition, vaccination status, and place of death were significantly associated with the survival period in all age groups. Moreover, region, sex, and prescription were significantly associated with the survival period only in certain age groups. However, reinfection was not significantly associated with the survival period in any age group. @*Conclusion@#To our knowledge, this is the first study on the risk factors for sudden death after a diagnosis of COVID-19, which included age, underlying condition, vaccination status, and place of death. Additionally, individuals aged < 60 years without an underlying condition were at high risk for sudden death. However, this group has relatively low interest in health, as can be seen from the high non-vaccination rate (16.1% of the general population vs. 61.6% of the corresponding group). Therefore, there is a possibility for the presence of an uncontrolled underlying disease in this population. In addition, many sudden deaths occurred due to delayed hospital visits to continue economic activities even after the onset of COVID-19 symptoms (7 days overall vs. 10 days average for the group). In conclusion, ‘continued interest in health’ is a key factor in avoiding sudden death in the economically active group (under 60 years of age).
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Quinolone antibiotics are frequently prescribed for suspected respiratory or urinary tract infections because of their effectiveness and generally perceived safety profile. On the other hand, some studies have raised concerns regarding the potential association between quinolone use and Achilles tendinopathy or tendon rupture. There is a lack of reports on the link between quinolone use and multiple tendon and tendon attachment site pain in the foot and ankle joints; hence, this study examined this issue further. This paper presents a case report of a patient with persistent Achilles tendinopathy and multiple tendon and tendon attachment site pain in the foot who did not respond adequately to conservative treatments. In particular, the discontinuation of quinolone use resulted in favorable clinical outcomes. This report offers valuable insights into the potential risks associated with quinolone antibiotics and highlights the importance of vigilance when managing patients with tendon-related complaints. A comprehensive review of the relevant literature is also presented to contextualize these findings.
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Objectives@#This study aimed to examine the effects of oral health-related self efficacy and social support on oral health-related quality of life, and analyze the related factors. @*Methods@#A cross-sectional study was carried out on 979 high school students living in Iksan. Data were collected from January 15 to 30, 2014. Individual self-administered surveys were conducted through the sampling method. The contents of the survey were the characteristics of the subjects, oral health-related self efficacy (OHSE), social support related to oral health (OHSS), and quality of life related to oral health (QHRQoL). A survey tool designed by the author was used to measure OHSE and OHSS. QHRQoL used Child Oral Health Impact Profile-Short Form 19 (COHIP-SF 19) for examination. The statistical analysis methods used were mean difference, correlation, and multiple regression analyses. @*Results@#QHRQol was correlated with OHSE, but not OHSS. Per the multivariate analysis, factors that affected QHRQoL were gender, mother’s education level, academic stress, and OHSE; OHSS did not have any effect. @*Conclusions@#It was found that OHSE influenced QHRQoL. Therefore, it is necessary to develop education programs that can enhance OHSE.
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Purpose@#This study aimed to identify the mediating effects of communication skills and pediatric nurse-parent partnership on the relationship between emotional intelligence and job satisfaction among pediatric nurses. @*Methods@#A survey was administered to 205 pediatric nurses working in children’s, general, and tertiary hospitals situated in Chungcheong province and Seoul. Data were collected in August and September 2022. The collected data were analyzed using SPSS Statistics version 26.0 along with the PROCESS macro program. @*Results@#Emotional intelligence had a significant effect, and was a critical factor affecting the job satisfaction of pediatric nurses. Furthermore, communication skills and nurse-parent partnership had a serial double mediating effect. @*Conclusion@#These findings underscore the significance of conducting job satisfaction improvement programs, including strategies for augmenting emotional intelligence, bolstering communication skills, and fostering nurse-parent partnership.
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Until now, rare disease studies have mainly been carried out by detecting simple variants such as single nucleotide substitutions and short insertions and deletions in protein-coding regions of disease-associated gene panels using diagnostic nextgeneration sequencing in association with patient phenotypes. However, several recent studies reported that the detection rate hardly exceeds 50% even when whole-exome sequencing is applied. Therefore, the necessity of introducing wholegenome sequencing is emerging to discover more diverse genomic variants and examine their association with rare diseases.When no diagnosis is provided by whole-genome sequencing, additional omics techniques such as RNA-seq also can be considered to further interrogate causal variants. This paper will introduce a description of these multi-omics techniques and their applications in rare disease studies.