Objective: We developed the Indoor Cognitive Training combined with Physical Activity (ICT-PA) program, incorporating memory registration, navigation, and image recall through wearable sensors and Bluetooth Low Energy tags, aimed at enhancing cognitive function and physical activity in elderly individuals with mild cognitive impairment (MCI). Methods: Thirty-six elderly individuals over 60 years diagnosed with MCI participated in a 6-week ICT-PA program. The primary outcome measure was the Consortium to Establish a Registry for Alzheimer’s Disease Neuropsychological Assessment Battery Total Score 1 (CERAD-TS1), and the secondary outcome measures were the Mini-Mental State Examination (MMSE), Subjective Memory Complaints Questionnaire (SMCQ), and Korean version of the Geriatric Depression Scale (GDS-KR). Changes in scores before and after the program were analyzed using paired t-tests. Program satisfaction was evaluated using a 5-point Likert scale. Results: CERAD-TS1 scores significantly improved after ICT-PA training (pre 57.3±11.3; post 60.3±13.1; p=0.006), while MMSE, SMCQ and GDS-KR scores remained unchanged. Subgroup analysis showed significant CERAD-TS improvements in the compliance group (>360 minutes of ICT-PA use) (pre 58.5±11.7; post 62.7±12.9; p=0.002). The average program satisfaction score was 7.7±1.6 out of 10. Data are presented as mean±standard deviation. Conclusion The ICT-PA program effectively improved cognitive functions in MCI patients, with high satisfaction rates.

Microdeletions of chromosome 22q11.2 are one of the most common microdeletions occurring in humans, and is known to be associated with a wide range of highly variable features. These deletions occur within a cluster of low copy repeats (LCRs) in 22q11.2, referred to as LCR22 A-H. DiGeorge (DGS)/velocardiofacial syndrome is the most prevalent form of a 22q11.2 deletions, caused by mainly proximal deletions between LCR22 A and D. As deletions of distal portion to the DGS deleted regions has been extensively studied, the recurrent distal 22q11.2 microdeletions distinct from DGS has been suggested as several clinical entities according to the various in size and position of the deletions on LCRs. We report a case of long-term follow-up of a female diagnosed with a 22q11.2 distal deletion syndrome, identified a deletion of 1.9 Mb at 22q11.21q11.23 (chr22: 21,798,906-23,653,963) using single nucleotide polymorphism array. This region was categorized as distal deletion type of 22q11.2, involving LCR22 D-F. She was born as a preterm, low birth weight to healthy non-consanguineous Korean parents. She showed developmental delay, growth retardation, dysmorphic facial features, and mild skeletal deformities. The patient underwent a growth hormone administration due to growth impairment without catch-up growth. While a height gain was noted, she had become overweight and was subsequently diagnosed with pre-diabetes. Our case could help broaden the genetic and clinical spectrum of 22q11.2 distal deletions.

BACKGROUND: To validate the clinical application of chromosomal microarray analysis (CMA) as a first-tier clinical diagnostic test and to determine the impact of CMA results on patient clinical management, we conducted a multicenter prospective study in Korean patients diagnosed as having developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and multiple congenital anomalies (MCA). METHODS: We performed both CMA and G-banding cytogenetics as the first-tier tests in 617 patients. To determine whether the CMA results directly influenced treatment recommendations, the referring clinicians were asked to complete a 39-item questionnaire for each patient separately after receiving the CMA results. RESULTS: A total of 122 patients (19.8%) had abnormal CMA results, with either pathogenic variants (N=65) or variants of possible significance (VPS, N=57). Thirty-five well-known diseases were detected: 16p11.2 microdeletion syndrome was the most common, followed by Prader-Willi syndrome, 15q11-q13 duplication, Down syndrome, and Duchenne muscular dystrophy. Variants of unknown significance (VUS) were discovered in 51 patients (8.3%). VUS of genes putatively associated with developmental disorders were found in five patients: IMMP2L deletion, PTCH1 duplication, and ATRNL1 deletion. CMA results influenced clinical management, such as imaging studies, specialist referral, and laboratory testing in 71.4% of patients overall, and in 86.0%, 83.3%, 75.0%, and 67.3% of patients with VPS, pathogenic variants, VUS, and benign variants, respectively. CONCLUSIONS: Clinical application of CMA as a first-tier test improves diagnostic yields and the quality of clinical management in patients with DD/ID, ASD, and MCA.
Autism Spectrum Disorder ; Autistic Disorder ; Cytogenetics ; Diagnostic Tests, Routine ; Down Syndrome ; Humans ; Intellectual Disability ; Korea ; Microarray Analysis ; Muscular Dystrophy, Duchenne ; Prader-Willi Syndrome ; Prospective Studies ; Referral and Consultation ; Specialization

OBJECTIVES: The present study aimed to investigate the relationships among the lifetime incidence of trauma, internalizing symptoms, and quality of life (QoL) in out-of-school youths (OSYs). METHODS: We recruited 50 OSYs in South Korea. Participants completed the following surveys: completed Lifetime Incidence of Traumatic Events for children, Youth Self Report, and The KIDSCREEN-27 QoL measure for children and adolescents. Mediation analysis was conducted to test the research hypotheses. RESULTS: The mean lifetime incidence of traumatic events among OSYs was 3.27 (standard deviation, 2.41). Internalizing symptoms significantly mediated the lifetime incidence of trauma and QoL. OSYs with fewer internalizing symptoms exhibited a better QoL in the domain of psychological well-being, although their lifetime incidence of trauma was higher. CONCLUSION: The results of current study suggest that assessment and therapeutic intervention with regard to internalizing symptoms are needed to increase the QoL of OSYs.
Adolescent* ; Anxiety ; Child ; Depression ; Humans ; Incidence* ; Korea ; Negotiating ; Quality of Life* ; Self Report ; Student Dropouts

Most cases of congenital hyperthyroidism are autoimmune forms caused by maternal thyroid stimulating antibodies. Nonautoimmune forms of congenital hyperthyroidism caused by activating mutations of the thyrotropin receptor (TSHR) gene are rare. A woman gave birth to a boy during an emergency cesarean section at 33 weeks of gestation due to fetal tachycardia. On the 24th day of life, thyroid function tests were performed due to persistent tachycardia, and hyperthyroidism was confirmed. Auto-antibodies to TSHR, thyroid peroxidase, and thyroglobulin were not found. The patient was treated with propylthiouracil and propranolol, but hyperthyroidism was not well controlled. At 3 months of age, the patient had craniosynostosis and hydrocephalus, and underwent a ventriculoperitoneal shunt operation. Direct sequencing of the TSHR gene showed a heterozygous mutation of c.1899C>A (p.Asp633Glu) in exon 10. No mutations were discovered in any of the parents in a familial genetic study. We have reported a case of sporadic nonautoimmune congenital hyperthyroidism, by a missense mutation of the TSHR gene, for the first time in South Korea.
Cesarean Section ; Craniosynostoses ; Emergencies ; Exons ; Female ; Germ-Line Mutation ; Humans ; Hydrocephalus ; Hyperthyroidism* ; Immunoglobulins, Thyroid-Stimulating ; Iodide Peroxidase ; Korea ; Male ; Mutation, Missense ; Parents ; Parturition ; Pregnancy ; Propranolol ; Propylthiouracil ; Receptors, Thyrotropin ; Tachycardia ; Thyroglobulin ; Thyroid Function Tests ; Ventriculoperitoneal Shunt

OBJECTIVES: This study aimed to compare the outcome of endoscopic and microscopic tympanoplasty. METHODS: This was a retrospective comparative study of 73 patients (35 males and 38 females) who underwent type I tympanoplasty at Samsung Medical Center from April to December 2014. The subjects were classified into two groups; endoscopic tympanoplasty (ET, n=25), microscopic tympanoplasty (MT, n=48). Demographic data, perforation size of tympanic membrane at preoperative state, pure tone audiometric results preoperatively and 3 months postoperatively, operation time, sequential postoperative pain scale (NRS-11), and graft success rate were evaluated. RESULTS: The perforation size of the tympanic membrane in ET and MT group was 25.3%±11.7% and 20.1%±11.9%, respectively (P=0.074). Mean operation time of MT (88.9±28.5 minutes) was longer than that of the ET (68.2±22.1 minutes) with a statistical significance (P=0.002). External auditory canal (EAC) width was shorter in the ET group than in the MT group (P=0.011). However, EAC widening was not necessary in the ET group and was performed in 33.3% of patients in the MT group. Graft success rate in the ET and MT group were 100% and 95.8%, respectively; the values were not significantly different (P=0.304). Pre- and postoperative audiometric results including bone and air conduction thresholds and air-bone gap were not significantly different between the groups. In all groups, the postoperative air-bone gap was significantly improved compared to the preoperative air-bone gap. Immediate postoperative pain was similar between the groups. However, pain of 1 day after surgery was significantly less in the ET group. CONCLUSION: With endoscopic system, minimal invasive tympanoplasty can be possible with similar graft success rate and less pain.
Ear Canal ; Endoscopy ; Humans ; Male ; Minimally Invasive Surgical Procedures ; Pain, Postoperative ; Retrospective Studies ; Transplants ; Tympanic Membrane ; Tympanoplasty*

Birt-Hogg-Dubé syndrome (BHDS) is a rare disease with autosomal dominant inheritance that manifests through skin tumors, pulmonary cystic lesions, and renal tumors. A mutation of FLCN located on chromosome 17p11.2, which encodes a tumor-suppressor protein (folliculin), is responsible for the development of BHDS. We report the case of a patient presenting with spontaneous pneumothorax, in whom a familial genetic study revealed a novel nonsense mutation: p.(Arg379*) in FLCN.
Birt-Hogg-Dube Syndrome* ; Codon, Nonsense ; Estrone* ; Humans ; Pneumothorax* ; Rare Diseases ; Skin ; Thoracic Surgery, Video-Assisted ; Thoracoscopy ; Wills

Birt-Hogg-Dubé syndrome (BHDS) is a rare disease with autosomal dominant inheritance that manifests through skin tumors, pulmonary cystic lesions, and renal tumors. A mutation of FLCN located on chromosome 17p11.2, which encodes a tumor-suppressor protein (folliculin), is responsible for the development of BHDS. We report the case of a patient presenting with spontaneous pneumothorax, in whom a familial genetic study revealed a novel nonsense mutation: p.(Arg379*) in FLCN.
Birt-Hogg-Dube Syndrome* ; Codon, Nonsense ; Estrone* ; Humans ; Pneumothorax* ; Rare Diseases ; Skin ; Thoracic Surgery, Video-Assisted ; Thoracoscopy ; Wills

Residents who are currently in the process of completing graduate medical education (GME) will eventually become independently practicing professionals; therefore, the quality of GME is of enormous importance for our society. To improve the quality of GME in Korea, we, as young doctors, suggest that the government support funding for GME; make all possible efforts to ensure reasonable and sustainable working conditions for residents; implement adequate maternity plans; prohibit all kinds of unauthorized medical practice by other healthcare providers; and prevent all kinds of workplace violence toward residents. These measures to improve the quality of GME will surely benefit patient safety and the overall quality of healthcare in the future.
Delivery of Health Care* ; Education, Medical, Graduate ; Financial Management ; Health Personnel ; Humans ; Internship and Residency ; Korea* ; Patient Safety ; Quality of Health Care ; Workplace Violence

OBJECTIVES: Obsessive-compulsive disorder (OCD) is a disabling psychiatric disorder, and more attention is recently paid on the quality of life (QoL) in OCD patients. The Euro-QoL-5D (EQ-5D) is a widely used self-report to calculate a single score which represents ‘health utilities’. The aim of this study was to assess the health-related QoL for patients with OCD using the EQ-5D and to examine the relationship between health-related QoL and symptom severity. METHODS: Seventy-three patients with a Diagnostic and Statistical Manual of Mental Disorders (DSM-5) diagnosis of OCD were recruited from the outpatient clinic in Seoul National University Hospital. Symptom severity was assessed using the Yale-Brown Obsessive-Compulsive Scale (YBOCS), and QoL was assessed with the EQ-5D-5L questionnaire. Using Korean valuation study, a single score of QoL was calculated. RESULTS: Most of the OCD patients were relatively young (< 45 years) with the mean YBOCS total score of 19.33. The mean EQ-5D score was 0.71 and significantly correlated with symptom severity (r = -0.483, p < 0.001). 25% of the EQ-5D score was predicted by the YBOCS total score (b = -0.011, p < 0.001) by regression analysis. CONCLUSIONS: OCD patients suffer from lower health-related QoL and QoL significantly decreased as symptom severity increased. The results of the EQ-5D would enable further studies on QoL comparison across medical disease and mental disorders.
Ambulatory Care Facilities ; Diagnosis ; Diagnostic and Statistical Manual of Mental Disorders ; Humans ; Mental Disorders ; Obsessive-Compulsive Disorder* ; Quality of Life* ; Seoul