Full-thickness skin grafting (FTSG) is frequently used to reconstruct facial soft tissue defects because it provides favorable color and texture matching. Secondary cystic lesions, including milia or epidermal cysts, that develop after FTSG are rare. A 29-year-old woman sustained a dog-bite injury resulting in a 4.5× 2.5 cm defect involving the philtrum and upper lip. The philtrum was reconstructed using a full-thickness skin graft harvested from the retroauricular area, while the upper lip was repaired using a mucosal V-Y advancement flap. Ten months later, hypertrophic scarring developed, and a second FTSG was performed using contralateral retroauricular skin. Despite repeated intralesional triamcinolone injections, the grafted area became tender and pruritic, with the appearance of multiple milia-like lesions. Over the subsequent 9 months, three recurrent cystic nodules developed within the scar tissue and were serially excised. Histopathological examination confirmed the diagnosis of secondary milia. After complete excision, no recurrence was observed for over 3 years. We discuss possible contributing mechanisms, including adnexal survival within grafts and the role of remnant epidermis or ductal obstruction. Awareness of this complication may help guide donor-site selection and wound-bed preparation in perioral reconstruction.

Pediatric hypertension (HTN) is a significant, growing health concern worldwide and also in Korea. Diagnosis, evaluation, and treatment of HTN in Korean children and adolescents are uncertain due to limitations in using the current international guidelines, since the recommendations by the American Academy of Pediatrics (AAP) and European Society of Hypertension (ESH) guidelines differ. Furthermore, these are guidelines for Western youth, who are racially and ethnically different from Koreans. In addition, reference blood pressure values for all pediatric age groups, which are essential for the diagnosis of HTN according to these two guidelines, are absent in Korea. Therefore, HTN guidelines for Korean children and adolescents should be established. The Korean Working Group of Pediatric Hypertension established clinical guidelines for the diagnosis, evaluation, and management of HTN in Korean children and adolescents. These guidelines were based on reported clinical evidence, expert recommendations, and AAP and ESH guidelines. The characteristics of Korean youth and the Korean medical and insurance system were considered during the establishment of the guidelines. By providing recommendations suitable for Korean youth, these guidelines will help in the prevention and management of childhood HTN, thus relieving the burden of cardiovascular disease in adulthood in Korea.

Follicle-stimulating hormone receptor (FSHR) mutation is a rare cause of amenorrhea. We report the first case of FSHR mutations in Korea. Two female siblings, aged 16 (patient 1) and 19 (patient 2) years, were referred to the pediatric endocrinology clinic because of primary amenorrhea despite normal breast budding. Gonadotropin-releasing hormone stimulation test showed markedly elevated luteinizing hormone and follicle-stimulating hormone with a relatively low level of estrogen, suggesting hypergonadotropic hypogonadism. Pelvic magnetic resonance imaging revealed a bicornuate uterus in patient 1 and uterine hypoplasia with thinning of the endometrium in patient 2. The progesterone challenge test revealed no withdrawal of bleeding. After two months of administration of combined oral contraceptives, menarche was initiated at regular intervals. To determine the genetic cause of amenorrhea in these patients, whole exome sequencing (WES) was performed, which revealed a compound heterozygous FSHR mutation, c.1364T>G (p.Val455Gly) on exon 10, and c.374T>G (p.Leu125Arg) on exon 4; both of which were novel mutations and were confirmed by Sanger sequencing. The patients maintained regular menstruation and improved bone mineral density while taking combined oral contraceptives, calcium, and vitamin D. Therefore, FSHR mutations can be the cause of amenorrhea in Koreans, and WES facilitates diagnosing the rare cause of amenorrhea.

Purpose: Whole-exome sequencing (WES) has been a useful tool for novel gene discovery of various disease categories, further increasing the diagnostic yield. This study aimed to investigate the clinical utility of WES prospectively in undiagnosed genetic diseases. Materials and Methods: WES tests were performed on 110 patients (age range, 0-28 years) with suspected rare genetic diseases. WES tests were performed at a single reference laboratory and the variants reported were reviewed by clinical geneticists, pediatricians, neurologists, and laboratory physicians. Results: The patients’ symptoms varied with abnormalities in the head or neck, including facial dysmorphism, being the most common, identified in 85.4% of patients, followed by abnormalities in the nervous system (83.6%). The average number of systems manifesting phenotypic abnormalities per patient was 3.9±1.7. The age at presentation was 2.1±2.7 years old (range, 0-15 years), and the age at WES testing was 6.7±5.3 years (range, 0-28 years). In total, WES test reported 100 pathogenic/likely pathogenic variants or variants of uncertain significance for 79 out of 110 probands (71.8%). Of the 79 patients with positive or inconclusive calls, 55 (50.0%) patients were determined to have good genotype-phenotype correlations after careful review. Further clinical reassessment and family member testing determined 45 (40.9%) patients to have been identified with a molecular diagnosis. Conclusion This study showed a 40.9% diagnostic yield for WES test for a heterogeneous patient cohort with suspected rare genetic diseases. WES could be the feasible genetic test modality to overcome the diversity and complexity of rare disease diagnostics.

Objective: The aim of this study was to examine the incidence and outcomes of pediatric out-of-hospital cardiac arrests (OHCA) in Changwon city, South Korea. Methods: From the Out-of-Hospital Cardiac Arrest Surveillance registry and the Changwon Fire Department’s Emergency Medical Services data, we obtained a list of 119 assessed pediatric OHCAs occurred between January 2012 and December 2018. We analyzed basic demographic variables, the location of cardiac arrest, witnessed status, bystander cardiopulmonary resuscitation (CPR), time variables for CPR, dispatcher-assisted CPR, initial cardiac rhythm, automated defibrillator use, and clinical outcomes at hospital discharge. Results: A total of 2,954 OHCAs occurred during the study period, of which 72 were pediatric OHCAs. The rate of witnessed cardiac arrest was 30.6% (22/72), and bystander CPR was performed in 29 patients (40.3%). The rate of cardiac arrest occurring in public places was 16.7% (12/72). The rate of shockable rhythm in the initial electrocardiogram rhythm was 8.3% (6/72). Twelve patients (16.7%) survived to admission. The proportion of survivors discharged was 4.3% (3/70), and the rate of discharge with a good prognosis was 2.8% (2/70). Conclusion The incidence rate of pediatric OHCA was low in Changwon city. The survival rate was also low. Thus, studies with larger sample sizes and continuous monitoring in the community are needed.

Purpose: Glyphosate herbicide (GH) is a widely used herbicide and has been associated with significant mortality as poisoned cases increases. One of the reasons for high toxicity is thought to be toxic effect of its ingredient with glyphosate. This study was designed to determine differences in the clinical course with the salt-type contained in GH. Methods: This was a retrospective study conducted at a single hospital between January 2013 and December 2017. We enrolled GH-poisoned patients visited the emergency department. According to salt-type, patients were divided into 4 groups: isopropylamine (IPA), ammonium (Am), potassium (Po), and mixed salts (Mi) groups. The demographics, laboratory variables, complications, and their mortality were analyzed to determine clinical differences associated with each salt-type. Addtionally, we subdivided patients into survivor and non-survivor groups for investigating predictive factors for the mortality. Results: Total of 348 GH-poisoned patients were divided as follows: IPA 248, Am 41, Po 10, and Mi 49 patients. There was no difference in demographic or underlying disease history, but systolic blood pressure (SBP) was low in Po group. The ratio of intentional ingestion was higher in Po and Mi groups. Metabolic acidosis and relatively high lactate level were presented in Po group.As the primary outcome, the mortality rates were as follows: IPA, 26 (10.5%); Am, 2 (4.9%); Po, 1 (10%); and Mi, 1 (2%). There was no statistically significant difference in the mortality and the incidence of complications. Additionally, age, low SBP, low pH, corrected QT (QTc) prolongation, and respiratory failure requiring mechanical ventilation were analyzed as independent predictors for mortality in a regression analysis. Conclusion There was no statistical difference in their complications and the mortality across the GH-salt groups in this study.

Objective: There have been many biological studies on suicide behaviors of borderline personality disorder (BPD), however few studies have sought to psychoanalytic characteristics including defense mechanisms. Therefore, we investigated psychological, symptomatic, and personality characteristics including defense mechanisms in suicide attempters and non-suicide attempters among patients with BPD. Methods: We enrolled 125 patients with BPD. Forty-two patients with a history of one or more suicide attempts formed the suicide attempters group and 83 patients with no such history formed the non-suicide attempters group. We collated the differences in clinical and psychological characteristics between the two groups by using the Symptom Checklist-90-Revised (SCL-90-R), the Minnesota Multiphasic Personality Inventory-2 (MMPI-2), the Personality Disorder Questionnaire-4+ (PDQ-4+), and the Defense Style Questionnaire (DSQ). Results: The suicide attempters group scored higher on the hostility subscale of SCL-90-R. The suicide attempters group also scored higher on the Infrequency, Back Infrequency, Lie, Masculinity-femininity, Paranoia, Psychasthenia, and Schizophrenia scales of the MMPI-2. The incidence of paranoid and antisocial personality disorders, as assessed by the PDQ-4+, was significantly different in both groups. Maladaptive, self-sacrificing defense style, splitting and affiliation on the DSQ were also higher for the suicide attempters group. In the results of the logistic regression analysis, gender, the F(B) and L scales on the MMPI-2, and ‘splitting of other’s image’ defense mechanism on the DSQ were the factors that significantly influenced to suicide attempts. Conclusion These findings suggest that impulsive psychiatric features and maladaptive defense style may be related to suicidal risk in patients with BPD. Therefore, our findings may help clinicians in estimating the risk of suicide in patients with BPD.

Floating-Harbor syndrome is a rare autosomal dominant disorder that presents with short stature, facial dysmorphism, significantly delayed bone age, skeletal abnormalities, speech and language problems, and intellectual disabilities. Although short stature is one of the main clinical manifestations, use of growth hormone therapy in Floating-Harbor syndrome patients has been limited. Only a few reports have investigated the response to growth hormone therapy with regard to final adult height. We report the case of a 7-year-old girl with FloatingHarbor syndrome and a heterozygous mutation, c.7330C > T (p.Arg2444*), in the SRCAP gene. The patient exhibited dysmorphic facial features, severe intellectual disabilities, obsessive-compulsive and aggressive behaviors, and short stature without growth hormone deficiency. Her height standard deviation score improved after 55 months of growth hormone therapy.

Purpose: The amis of this study were to examine the suicide traumatic experiences and attitudes toward suicide and examine their associations with depression, self-efficacy, and social support in general adults. Methods: In this descriptive cross-sectional study, data were collected through a web-based survey (N=500). We analyzed 441 respondents considering missing data. A structured questionnaire included Attitude Toward Suicide (ATTS), experiences and characteristics related to suicide, depression, self-efficacy, and social support. The data were analyzed using descriptive statistics, one-way ANOVA with Scheffé tests, Fisher’s exact tests, and Pearson’s correlation coefficients with SPSS/WIN 23. Results: Among study participants, 34.9% reported suicide traumatic experiences. When they had more acceptability’ and ‘understandability’ in the attitudes toward suicide, they were younger, more depressive, and at the lower level of self-efficacy. There were somewhat differences of associations of ‘understandability’ in the attitudes toward suicide with depression, suicide attempt, suicide thought, and experience counseling between the suicide trauma and non-trauma groups. There were positive correlations for ‘acceptability’, ‘understandability’, ‘tabooing’, and depression and negative correlations for ‘acceptability’, self-efficacy, and social support. Conclusion Our study findings suggest that educational programs need to improve nurse’s ability in suicide-related practices considering psychological factors and development of comprehensive nursing interventions.

OBJECTIVE: To investigate the effects of different types of mammography equipment on screening outcomes by comparing the performance of film-screen mammography (FSM), computed radiography mammography (CRM), and digital mammography (DM).MATERIALS AND METHODS: We retrospectively enrolled 128756 sets of mammograms from 10 hospitals participating in the Alliance for Breast Cancer Screening in Korea between 2005 and 2010. We compared the diagnostic accuracy of the types of mammography equipment by analyzing the area under the receiver operating characteristic curve (AUC) with a 95% confidence interval (CI); performance indicators, including recall rate, cancer detection rate (CDR), positive predictive value₁ (PPV₁), sensitivity, specificity, and interval cancer rate (ICR); and the types of breast cancer pathology.RESULTS: The AUCs were 0.898 (95% CI, 0.878–0.919) in DM, 0.860 (0.815–0.905) in FSM, and 0.866 (0.828–0.903) in CRM (p = 0.150). DM showed better performance than FSM and CRM in terms of the recall rate (14.8 vs. 24.8 and 19.8%), CDR (3.4 vs. 2.2 and 2.1 per 1000 examinations), PPV₁ (2.3 vs. 0.9 and 1.1%), and specificity (85.5 vs. 75.3 and 80.3%) (p < 0.001) but not in terms of sensitivity (86.3 vs. 87.4 and 86.3%) and ICR (0.6 vs. 0.4 and 0.4). The proportions of carcinoma in situ (CIS) were 27.5%, 13.6%, and 11.8% for DM, CRM, and FSM, respectively (p = 0.003).CONCLUSION: In comparison to FSM and CRM, DM showed better performance in terms of the recall rate, CDR, PPV₁, and specificity, although the AUCs were similar, and more CISs were detected using DM. The application of DM may help to improve the quality of mammography screenings. However, the overdiagnosis issue of CIS using DM should be evaluated.
Area Under Curve ; Breast Neoplasms ; Breast ; Carcinoma in Situ ; Korea ; Mammography ; Mass Screening ; Medical Overuse ; Pathology ; Radiography ; Retrospective Studies ; ROC Curve ; Sensitivity and Specificity