Purpose: Tubulinopathy represents a group of disorders caused by variants in tubulin genes, which present with a wide spectrum of brain malformations. This study was conducted to provide insight into the phenotypic and genetic spectra of tubulinopathy within the Korean pediatric population. Methods: Among individuals who underwent genetic testing at a pediatric neurology clinic between June 2011 and December 2021, 15 patients with tubulin gene variants were retrospectively recruited. Clinical features, genetic information, and brain imaging findings were retrospectively reviewed. Results: The genetic spectra of the patients included TUBA1A (n=5, 33.3%), TUBB4A (n=6, 40.0%), TUBB3 (n=2, 13.3%), TUBB (n=1, 6.7%), and TUBB2A (n=1, 6.7%) variants. Two novel mutations were identified: a c.497A>G; p.(Lys166Arg) variant in TUBA1A and a c.907G>C; p.(Ala303Pro) variant in TUBB. All 15 patients exhibited developmental delays, with a broad spectrum of severity. Other common manifestations included microcephaly (n=10; 66.7%) and seizures (n=9; 60%). A review of the neuroimaging data revealed a range of findings that were both genotype-specific and overlapping across genotypes. In cases of TUBA1A mutation (n=5), four patients (80%) presented with pachygyria and polymicrogyria, while three (60%) displayed cerebellar hypoplasia and dysplasia. All patients with TUBB4A variants (n=6) exhibited hypomyelination, and three (50%) had cerebellar dysplasia. Conclusion This study represents the first cohort analysis of tubulin gene mutations associated with tubulinopathy in a Korean pediatric population. It suggests that these mutations can produce a broad spectrum of neurodevelopmental and neuroimaging findings and should be considered within the differential diagnosis in relevant clinical scenarios.

Background: A healthcare system’s collapse due to a pandemic, such as the coronavirus disease 2019 (COVID-19), can expose healthcare workers (HCWs) to various mental health problems. This study aimed to investigate the impact of the COVID-19 pandemic on the depression and anxiety of HCWs. Methods: A nationwide questionnaire-based survey was conducted on HCWs who worked in healthcare facilities and public health centers in Korea in December 2020. Patient Health Questionnaire-9 (PHQ-9) and Generalized Anxiety Disorder-7 (GAD-7) were used to measure depression and anxiety. To investigate factors associated with depression and anxiety, stepwise multiple logistic regression analysis was performed. Results: A total of 1,425 participating HCWs were included. The mean depression score (PHQ-9) of HCWs before and after COVID-19 increased from 2.37 to 5.39, and the mean anxiety score (GAD-7) increased from 1.41 to 3.41. The proportion of HCWs with moderate to severe depression (PHQ-9 ≥ 10) increased from 3.8% before COVID-19 to 19.5% after COVID-19, whereas that of HCWs with moderate to severe anxiety (GAD-7 ≥ 10) increased from 2.0% to 10.1%. In our study, insomnia, chronic fatigue symptoms and physical symptoms after COVID-19, anxiety score (GAD-7) after COVID-19, living alone, and exhaustion were positively correlated with depression. Furthermore, post-traumatic stress symptoms, stress score (Global Assessment of Recent Stress), depression score (PHQ-9) after COVID-19, and exhaustion were positively correlated with anxiety. Conclusion In Korea, during the COVID-19 pandemic, HCWs commonly suffered from mental health problems, including depression and anxiety. Regularly checking the physical and mental health problems of HCWs during the COVID-19 pandemic is crucial, and social support and strategy are needed to reduce the heavy workload and psychological distress of HCWs.

PURPOSE: Accuracy of image matching between resting and smiling facial models is affected by the stability of the reference surfaces. This study aimed to investigate the morphometric variations in subdivided facial units during resting, posed and spontaneous smiling. MATERIALS AND METHODS: The posed and spontaneous smiling faces of 33 adults were digitized and registered to the resting faces. The morphological changes of subdivided facial units at the forehead (upper and lower central, upper and lower lateral, and temple), nasal (dorsum, tip, lateral wall, and alar lobules), and chin (central and lateral) regions were assessed by measuring the 3D mesh deviations between the smiling and resting facial models. The one-way analysis of variance, Duncan post hoc tests, and Student’s t-test were used to determine the differences among the groups (α = .05). RESULTS: The smallest morphometric changes were observed at the upper and central forehead and nasal dorsum; meanwhile, the largest deviation was found at the nasal alar lobules in both the posed and spontaneous smiles (P < .001). The spontaneous smile generally resulted in larger facial unit changes than the posed smile, and significant difference was observed at the alar lobules, central chin, and lateral chin units (P < .001). CONCLUSION The upper and central forehead and nasal dorsum are reliable areas for image matching between resting and smiling 3D facial images. The central chin area can be considered an additional reference area for posed smiles; however, special cautions should be taken when selecting this area as references for spontaneous smiles.

Codonopsis lanceolata, which is predominantly found in Korea and East Asia, has attracted considerable scientific attention due to its long-standing use in traditional medicine. However, despite both its roots and stems being utilized as functional food and medicinal resources, there has been limited phytochemical investigation into its aerial parts. Therefore, the aim of this study is to isolate compounds present in the aerial parts of C. lanceolata. Through repeated chromatography, two alkaloids (1 and 2), seven flavones (3-9), and three isoflavones (10-12) and one type of phenylpropanoid (13) and polyacetylene (14) were isolated from a 70% ethanol extract of C. lanceolata. The structure of each compound was determined through the analysis of spectroscopic data ( 1 H and 13 C NMR), and by comparing them with previous research results. Among the isolates, the presence of methyl 2-formyl-5-(methoxymethyl)-1H-pyrrole-1-butanoate (1), chrysoeriol 5-O-β-D-glucopyranoside (3), apigenin-5-O-β-D-glucopyranoside (5), and 3′-O-methylorobol 7-O-β-D-glucopyranoside (12) were reported for the first time in plants belonging to the Campanula family in this study. In addition, the current study marked the isolation of luteolin 4′-O-β-D-glucopyranoside (4) from C. lanceolata for the first time.

Background: A chronic disease management program including patient education, recall and remind service, and reduction of out-of-pocket payment was implemented in Korea through a chronic care model. This study aimed to assess the effect of a community-based intervention program for improving medication adherence of patients with diabetes mellitus in rural areas of Korea. Methods: We applied a non-equivalent control group design using Korean National Health Insurance Big Data. Hongcheon County has been continuously adopting this program since 2012 as an intervention region. Hoengseong County did not adopt such program. It was used as a control region. Subjects were a cohort of patients with diabetes mellitus aged more than 65 years but less than 85 years among residents for 11 years from 2010 to 2020. After 1:1 matching, there were 368 subjects in the intervention region and 368 in the control region. Indirect indicators were analyzed using the difference-in-difference regression according to Andersen’s medical use model. Results: The increasing percent point of diabetic patients who continuously received insurance benefits for more than 240 days from 2010 to 2014 and from 2010 to 2020 were 2.6%p and 2.7%p in the intervention region and 3.0%p and 3.9%p in the control region, respectively. The number of dispensations per prescription of diabetic patient in the intervention region increased by approximately 4.61% by month compared to that in the control region. Conclusion The intervention program encouraged older people with diabetes mellitus to receive continuous care for overcoming the rule of halves in the community. More research is needed to determine whether further improvement in the continuity of comprehensive care can prevent the progression of cardiovascular diseases.

Objective: Computed tomography enterography (CTE) and magnetic resonance enterography (MRE) are considered substitutes for each other for evaluating Crohn’s disease (CD). However, the adequacy of mixing them for routine periodic follow-up for CD has not been established. This study aimed to compare MRE alone with the mixed use of CTE and MRE for the periodic follow-up of small bowel inflammation in patients with CD. Materials and Methods: We retrospectively compared two non-randomized groups, each comprising 96 patients with CD. One group underwent CTE and MRE (MRE followed by CTE or vice versa) for the follow-up of CD (interval, 13–27 months [median, 22 months]), and the other group underwent MRE alone (interval, 15–26 months [median, 21 months]). However, these two groups were similar in clinical characteristics. Three independent readers from three different institutions determined whether inflammation had decreased, remained unchanged, or increased within the entire small bowel and the terminal ileum based on sequential enterography of the patients after appropriate blinding. We compared the two groups for inter-reader agreement and accuracy (terminal ileum only) using endoscopy as the reference standard for enterographic interpretation. Results: The inter-reader agreement was greater in the MRE alone group for the entire small bowel (intraclass correlation coefficient [ICC]: 0.683 vs. 0.473; p = 0.005) and the terminal ileum (ICC: 0.656 vs. 0.490; p = 0.030). The interpretation accuracy was higher in the MRE alone group without statistical significance (70.9%–74.5% vs. 57.9%–64.9% in individual readers; adjusted odds ratio = 3.21; p = 0.077). Conclusion The mixed use of CTE and MRE was inferior to MRE alone in terms of inter-reader reliability and could probably be less accurate than MRE alone for routine monitoring of small bowel inflammation in patients with CD. Therefore, the consistent use of MRE is favored for this purpose.

Purpose: Pediatricians have a significant responsibility to educate mothers about the importance of breastfeeding. However, there have been minimal efforts in the courses of resident training in Korea. The purpose of this study is to evaluate the change in knowledge and attitude before and after a 4-week breastfeeding educational intervention among multicenter residents. Methods: Prospective interventional educational research was designed for residents at eight training hospitals in Korea. Institutional reviews were obtained in each hospital. The education curriculum consisted of 14 courses regarding breastfeeding theory and practice. These materials were used to teach pediatric residents for 4 weeks. Knowledge-based tests were administered before the course, and re-tests were administered after the course using different test items of similar levels. Test scores and survey responses were compared before and after the intervention. Results: A total of 73 residents (1st year 20, 2nd year 23, 3rd year 16, and 4th year residents 14) from eight training hospitals completed the intervention. Their average age was 30.3±2.9 years, 17 (23.3%) were male, 22 (30.1%) were married, and eight had more than one child of their own. The mean pre-test score was 61.8±13.4 and the mean post-test score was 78.3±7.5 (P<0.001). The inter-grade difference in the score was significant in the pre-test (P=0.005), but not significant in the post-test (P=0.155). There were more responses of obtaining confidence after the intervention (P<0.001). Conclusion In our study, pediatric residents showed improvement in their knowledge and confidence level after 4 weeks of the breastfeeding curriculum. This will provide a basis for future policymaking in the training of pediatric residents regarding breastfeeding in Korea.

Background and Objectives: The middle ear, eustachian tube, and nasal cavity are anatomically adjacent, so the middle ear pressure (MEP), eustachian tube function (ETF), and nasal cavity condition are highly correlated. In this study, the effect of nasal septal deviation (NSD) on ETF and the effects of septoplasty on ETF and MEP were meta-analyzed using the results of tympanogram.Subjects and Method A systematic search was conducted using the PubMed, Embase, the Web of Science, and the Cochrane Central Register of Controlled Trials. The MEP and ETF were compared before and after septoplasty. We also compared eustachian tube dysfunction observed from the deviated side and from the non-deviated side of the ear. Heterogeneity was analyzed within the subgroups. Results: Eustachian tube dysfunction was about twice as high in the narrowed side of NSD patients than in other patients. The tympanogram results did not show any significant difference when subgroups were observed before, within 1 month after, or 3 months after septoplasty. Eustachian tube dysfunction before septoplasty was about 4.5 times higher than after septoplasty (when followed up for more than 1 month). From the subgroup analysis of deviated and non-deviated sides, MEP before septoplasty was significantly lower than after septoplasty and eustachian tube dysfunction was approximately 4 times higher in the narrowed nasal cavity. Conclusion The narrowed side of the nasal cavity in NSD can be related to eustachian tube dysfunction. Septoplasty may help restore ETF in the ears of narrowed side of the nasal cavity.

Hereditary angioedema (HAE) is a rare inherited condition marked by recurrent skin and submucosal edema. HAE is caused by a C1 inhibitor deficiency or decreased C1 inhibitor function. The initial attack may occur during childhood or pregnancy, with symptoms ranging from classic angioedema to nonspecific stomach cramps. In this review, we discuss strategies for children and pregnant women to manage HAE attacks effectively and safely in light of the recent increase in HAE diagnosis. To begin, aggressive work-up is necessary to confirm HAE–1/2 and to determine the most effective countermeasures. Secondly, in the event of an acute attack, plasma-derived C1-inhibitor is the first line of defense for children and pregnant women. Icatibant is also appropriate for use, except in pregnant women. Fresh frozen plasma (FFP) may be suggested as an alternative. Thirdly, proactive measures to prevent HAE attacks should be considered whenever a procedure is performed that may result in an exacerbation. Finally, FFP, attenuated androgen and antifibrinolytic agents are recommended for long-term prophylaxis in South Korea where the C1-inhibitor is scarce. However, when making a decision, it is necessary to consider both the efficacy and the risk of adverse effects. For proper management, written action plans and first-aid kits are required. The action plans should be customized to the patients‘ unique circumstances.