CCCTC-binding factor (CTCF) is a transcriptional regulator that binds to a complex DNA motif in various orientations and plays a crucial role in regulating gene expression, chromatin restructuring, and developmental processes. Mutations in the CTCF are associated with neurodevelopmental disorders. Here we report the first Korean case with a de novo heterozygous variant in the CTCF (c.1025G>A; p.Arg342His). She showed global developmental delay, failure to thrive, and dysmorphic face, which are phenotypes consistent with previous reports in the autosomal dominant intellectual developmental disorder 21 (MIM 615502). She also showed clinical features not previously reported, such as antral web and tracheobronchomalacia.Our case follows suit and expands understanding of this rare disorder by reporting common features and, on the other hand, unreported concomitant congenital anomalies.

Objective: To assess pre-biologic treatments with conventional synthetic disease-modifying drugs (csDMARDs) prior to biologics initiation among patients with rheumatoid arthritis (RA). Methods: Using Korea National Health Insurance database, we examined pre-biologic treatments of RA patients on the following four items: whether 1) initial methotrexate (MTX) therapy was given, 2) MTX dose was escalated up to ≥15 mg/week within 1-year post-diagnosis, 3) prednisone-equivalent glucocorticoid was used at a dose of ≤7.5 mg/day, and 4) glucocorticoid was discontinued within 6 months of treatment. Multivariable logistic regressions identified predictors of items 2) and 4) fulfillment. Results: Among 6,986 biologics initiators with RA, 54.9% used MTX as the 1st csDMARD. Within 1-year post-diagnosis, 85.2% used MTX with half of them achieving a dose of ≥15 mg/week. The majority (75.2%) of patients used glucocorticoids initially and 64.5% were still on glucocorticoids at 6 months, mostly at a dose of ≤7.5 mg/day. csDMARD combination was observed in 85.7%. Item 2) fulfillment was associated with males, younger age, glucocorticoid, combination therapy, cyclo-oxygenase-2 inhibitors, and viral hepatitis. Item 4) fulfillment was associated with males, MTX dose of ≥15 mg/week, combination therapy, viral hepatitis, and hospitalizations. Conclusion RA patients in Korea were predominantly treated with MTX-based csDMARD combination plus glucocorticoids before initiating biologics, without sufficient MTX dose escalation or glucocorticoid discontinuation. Items 2) and 4) fulfillments were associated with patient age and gender, concomitant treatments, and comorbidities.

BACKGROUND/OBJECTIVES: This study examined socio-economic differences in diverse food consumption among children 6–23 months of age in South Asia and Southeast Asian countries. SUBJECTS/METHODS: Data from Demographic and Health Surveys in four countries in South Asia (n = 15,749) and four countries in Southeast Asia (n = 10,789) were used. Survey-design adjusted proportions were estimated for the following 10 food items: grains, legumes, dark green leafy vegetables (DGLV), vitamin A-rich fruits, vitamin A-rich vegetables, other fruits and vegetables (OFV), fish, meat, dairy, and eggs. An equity gap was defined as an arithmetic difference in the proportion of each food item consumed in the past 24-hours between the wealthiest and lowest quintiles and between rural and urban areas, denoted by percentage points (pp). RESULTS: The consumption of most of the 10 food items was higher in the wealthiest quintiles and urban areas across eight countries. The size of equity gaps was greater in Southeast Asia than in South Asia, particularly for vitamin A-rich fruits (3.3–30.0 pp vs. 0.3–19.6 pp), vitamin A-rich vegetables (12.1–26.7 pp vs. 2.4–5.9 pp), meat (17.7–33.4 pp vs. 3.4–13.4 pp), and dairy (14.7–32.5 pp vs. 3.3–11.4 pp). However, the size of equity gap in egg consumption was greater in Southeast Asia than South Asia (11.2–19.8 pp vs. 11.0–26.7 pp). Relatively narrower gaps were seen in the consumption of grains (0.3–12.9 pp), DGLV (0.6–12.4 pp), and fish (0.1–16.8 pp) across all countries. CONCLUSIONS Equity gaps in food consumption differed by socio-economic status and region. Reducing equity gaps in nutrient-rich foods and utilizing regionally available food resources may increase child dietary quality.

Background: Periocular dark circles (PDCs) are a common cosmetic complaint. Grading systems based on objective measures have been used but no standard system is in place. Objective: To determine factors associated with subjective and objective PDC severity. Methods: Enrolled patients (n=100) completed a questionnaire comprised of demographic variables, medical history, and self-perception of PDC. Those perceiving PDC graded dissatisfaction on a 10-point scale. Clinical severity (grades 0∼4) and subtype (constitutional, post-inflammatory, vascular, shadow effects, or others) were determined. A Konica Minolta CR-400 chromameter was used to obtain colorimetry measurements (L*a*b* values). The objective average difference in darkness (ΔL*) between the periocular region and the cheek was determined. Comparisons were made using Spearman correlation coefficients (r). Results: Patient dissatisfaction correlated with both clinical severity (r=0.46,p＜0.001) and the ΔL* by colorimetry (r=0.35, p=0.004). Factors associated with subjective dissatisfaction were female sex (r=0.38, p=0.002), higher Fitzpatrick skin type (r=0.42, p=0.001), fewer hours of sleep (r=–0.28, p=0.03), and use of concealer (r=0.35, p=0.004). Factors associated with objective measures were higher Fitzpatrick skin type (r=0.36, p= 0.0007 and r=0.28, p=0.009, respectively), family history of PDC (r=0.34, p＜0.001 and r=0.20, p=0.05), and history of eczema (r=0.45, p＜0.001 and r=0.20, p=0.0504). Clinical severity grading correlated with colorimetric severity (r=0.36, p=0.0003). Conclusion Overall, subjective dissatisfaction was associated with clinical severity. However, factors associated with subjective severity did not necessarily overlap with factors associated with objective severity. These findings highlight the importance of patient-reported grading. There may be added value in incorporating a component of subjective grading into the traditionally objective PDC grading scales.

Background: Periocular dark circles (PDCs) are a common cosmetic complaint. Grading systems based on objective measures have been used but no standard system is in place. Objective: To determine factors associated with subjective and objective PDC severity. Methods: Enrolled patients (n=100) completed a questionnaire comprised of demographic variables, medical history, and self-perception of PDC. Those perceiving PDC graded dissatisfaction on a 10-point scale. Clinical severity (grades 0∼4) and subtype (constitutional, post-inflammatory, vascular, shadow effects, or others) were determined. A Konica Minolta CR-400 chromameter was used to obtain colorimetry measurements (L*a*b* values). The objective average difference in darkness (ΔL*) between the periocular region and the cheek was determined. Comparisons were made using Spearman correlation coefficients (r). Results: Patient dissatisfaction correlated with both clinical severity (r=0.46,p＜0.001) and the ΔL* by colorimetry (r=0.35, p=0.004). Factors associated with subjective dissatisfaction were female sex (r=0.38, p=0.002), higher Fitzpatrick skin type (r=0.42, p=0.001), fewer hours of sleep (r=–0.28, p=0.03), and use of concealer (r=0.35, p=0.004). Factors associated with objective measures were higher Fitzpatrick skin type (r=0.36, p= 0.0007 and r=0.28, p=0.009, respectively), family history of PDC (r=0.34, p＜0.001 and r=0.20, p=0.05), and history of eczema (r=0.45, p＜0.001 and r=0.20, p=0.0504). Clinical severity grading correlated with colorimetric severity (r=0.36, p=0.0003). Conclusion Overall, subjective dissatisfaction was associated with clinical severity. However, factors associated with subjective severity did not necessarily overlap with factors associated with objective severity. These findings highlight the importance of patient-reported grading. There may be added value in incorporating a component of subjective grading into the traditionally objective PDC grading scales.

BACKGROUND: Associations between acne and gastrointestinal comorbidities suggest that microbial dysbiosis and intestinal permeability may promote inflammatory acne, a condition often managed with oral antibiotics. OBJECTIVE: We performed a case-control study to investigate the skin and gut microbiota in 8 acne patients before and after receiving oral minocycline compared to controls matched by age ±5 years, sex, and race. METHODS: DNA was extracted from stool samples and facial skin swabs. Sequencing of the V3V4 region of the bacterial 16S rRNA gene was performed using Illumina MiSeq and analyzed using QIIME/MetaStats 2.0 software. RESULTS: Acne patients included 7 female and 1 male, ages 20~32. Shannon diversity was not significantly different between the skin (p=0.153) or gut (p < 0.999) microbiota of acne patients before and after antibiotics. The gut microbiota in pre-antibiotic acne patients compared to acne-free controls was depleted in probiotics Lactobacillus iners (p=0.001), Lactobacillus zeae (p=0.001), and Bifidobacterium animalis (p=0.026). After antibiotics, the gut microbiota of acne patients was depleted in Lactobacillus salivarius (p=0.001), Bifidobacterium adolescentis (p=0.002), Bifidobacterium pseudolongum (p=0.010), and Bifidobacterium breve (p=0.042), while the skin microbiota was enriched in probiotics Bifidobacterium longum (p=0.028) and Leuconostoc mesenteroides (p=0.029) and depleted in Staphylococcus epidermidis (p=0.009) and Prevotella nigrescens (p=0.028). At the phylum level, significant enrichment of Bacteroidetes in stool of acne patients following antibiotic treatment (p=0.033) led to a decreased Firmicutes to Bacteroidetes ratio. CONCLUSION Minocycline produces significant derangements in the microbiota of the skin and gut, including many probiotic species, highlighting the potential for more targeted antimicrobial treatments for acne.

PURPOSE: To quantify the size of commotio retinae and investigate its spontaneous resolution over time using ultra-wide field (UWF) color fundus photography.METHODS: We analyzed serial UWF color fundus photographs of 33 eyes of 33 ocular trauma patients with commotio retinae. Total visible retinal areas and the areas of commotio retinae were measured at baseline, 3 days, 1 week, and 4 weeks from the initial traumatic event.RESULTS: The median time of observation was 10.8 ± 12.1 (4-44) weeks. Spontaneous resolution of commotio retinae was observed in all patients, and no patients experienced any complications during the follow-up period. The mean percentage of commotio retinae at 3 days significantly decreased compared to the baseline (8.51 ± 9.66% versus 12.23 ± 10.39%; p < 0.001), and more decreased at 1 week (1.04 ± 2.75%; p < 0.001), but no significant differences were observed between 1 week and 4 weeks (0.00 ± 0.00%; p = 0.219). The spontaneous resolution percentages during the first 3 days, between 3 days and 1 week, and during the next 4 weeks were 12.97 ± 13.44%/day, 19.62 ± 9.22%/day, and 0.87 ± 1.87%/day, respectively (p = 0.192 and p < 0.001, respectively). The resolution rate was higher during the first 1 week.CONCLUSIONS: We quantified the size of commotio retinae using UWF color fundus photography. Most patients with commotio retinae resolved spontaneously during the first 1 week following trauma, and all cases completely resolved at 1 month without any complications.

Subcutaneous panniculitis-like T cell lymphoma (SPTL) is a distinctive cutaneous lymphoma characterized by an infiltration of subcutaneous tissue by neoplastic T cells, similar to panniculitis. It is well-established that patients who are diagnosed with SPTL usually respond poorly to chemotherapy, showing fatal outcome. As a first line treatment for SPTL, anthracycline-based chemotherapy was most frequently used. For the treatment of SPTL, the efficacy of cyclosporine A has been recently reported in relapsed SPTL after anthracycline-based chemotherapy. However, it is still not clear whether cyclosporine A can be used as a first-line treatment against SPTL. Here, we report a case of SPTL, which achieved complete remission for nine years after first-line cyclosporine A therapy. This study suggests that cyclosporine A can induce a complete long-term remission as a first-line treatment.
Cyclosporine* ; Drug Therapy ; Fatal Outcome ; Humans ; Lymphoma ; Lymphoma, T-Cell* ; Panniculitis ; Subcutaneous Tissue ; T-Lymphocytes

Anesthetic management of pediatric liver transplantation in a patient with osteogenesis imperfecta (OI) requires tough decisions and comprehensive considerations of the cascade of effects that may arise and the required monitoring. Total intravenous anesthesia (TIVA) with propofol and remifentanil was chosen as the main anesthetic strategy. Malignant hyperthermia (MH), skeletal fragility, anhepatic phase during liver transplantation, uncertainties of TIVA in children, and propofol infusion syndrome were considered and monitored. There were no adverse events during the operation. Despite meticulous precautions with regard to the risk of MH, there was an episode of high fever (40degrees C) in the ICU a few hours after the operation, which was initially feared as MH. Fortunately, MH was ruled out as the fever subsided soon after hydration and antipyretics were given. Although the delivery of supportive care and the administration of dantrolene are the core principles in the management of MH, perioperative fever does not always mean a MH in patients at risk for MH, and other common causes of fever should also be considered.
Anesthesia, Intravenous ; Antipyretics ; Child ; Dantrolene ; Fever ; Humans ; Infant* ; Liver Transplantation* ; Malignant Hyperthermia ; Osteogenesis Imperfecta* ; Pediatrics ; Pharmacokinetics ; Propofol

Antidiabetic and beta cell-protection activities of purple corn anthocyanins (PCA) were examined in pancreatic beta cell culture and db/db mice. Only PCA among several plant anthocyanins and polyphenols showed insulin secretion activity in culture of HIT-T15 cells. PCA had excellent antihyperglycemic activity (in terms of blood glucose level and OGTT) and HbA1c-decreasing activity when compared with glimepiride, a sulfonylurea in db/db mice. In addition, PCA showed efficient protection activity of pancreatic beta cell from cell death in HIT-T15 cell culture and db/db mice. The result showed that PCA had antidiabetic and beta cell-protection activities in pancreatic beta cell culture and db/db mice.
Animals ; Anthocyanins* ; Blood Glucose ; Cell Culture Techniques ; Cell Death ; Insulin ; Insulin-Secreting Cells ; Mice ; Passive Cutaneous Anaphylaxis ; Plants ; Polyphenols ; Zea mays*