Background: Current international guidelines recommend against deep sedation as it is associated with worse outcomes in the intensive care unit (ICU). However, in Korea the prevalence of deep sedation and its impact on patients in the ICU are not well known. Methods: From April 2020 to July 2021, a multicenter, prospective, longitudinal, noninterventional cohort study was performed in 20 Korean ICUs. Sedation depth extent was divided into light and deep using a mean Richmond Agitation–Sedation Scale value within the first 48 hours. Propensity score matching was used to balance covariables; the outcomes were compared between the two groups. Results: Overall, 631 patients (418 [66.2%] and 213 [33.8%] in the deep and light sedation groups, respectively) were included. Mortality rates were 14.1% and 8.4% in the deep and light sedation groups (P = 0.039), respectively. Kaplan-Meier estimates showed that time to extubation (P < 0.001), ICU length of stay (P = 0.005), and death P = 0.041) differed between the groups. After adjusting for confounders, early deep sedation was only associated with delayed time to extubation (hazard ratio [HR], 0.66; 95% confidence inter val [CI], 0.55– 0.80; P < 0.001). In the matched cohort, deep sedation remained significantly associated with delayed time to extubation (HR, 0.68; 95% 0.56–0.83; P < 0.001) but was not associated with ICU length of stay (HR, 0.94; 95% CI, 0.79–1.13; P = 0.500) and in-hospital mortality (HR, 1.19; 95% CI, 0.65–2.17; P = 0.582). Conclusion In many Korean ICUs, early deep sedation was highly prevalent in mechanically ventilated patients and was associated with delayed extubation, but not prolonged ICU stay or in-hospital death.

Objectives: This study aimed to comparatively analyze the demographic characteristics and various other factors influencing those attempting suicide from the younger and older generations during the COVID-19 pandemic. Methods: The study included subjects who visited the emergency room of the Gachon University Gil Medical Center in Incheon after attempting to cause self-harm or commit suicide. Of the total of 598 cases, the characteristics of 383 subjects belonging to the younger generation (39 years old or younger) and 215 to the older generation subject (40 years old or older) were retrospectively compared. Results: The younger generation subjects who attempted suicide had significantly higher rates of psychiatric disorders such as bipolar disorder and histories of past suicide attempts compared to the older generation. Those attempting suicide among the younger generation were less planned in their attempts to commit suicide than the older generation, and the authenticity of their suicide attempts was significantly lower. Conclusion The younger generation subjects who attempted suicide were more affected by mental illnesses and more impulsive than those of the older generation, and the authenticity and medical lethality of their suicide attempts were low. An individual-centric intervention strategy for suicide prevention is needed in consideration of these generational characteristics.

Recent studies have reported on the reconstruction of oral mucosal defects using acellular dermal matrix (ADM). This case report describes the reconstruction of a soft-palate mucosal defect using ADM. A 43-year-old man developed a 2.5 cm × 3 cm soft-palate mucosal defect after the removal of a lump on the soft palate andreconstructed the defect using ADM without further complications. Reconstruction of the soft palate with ADM could be more convenient than traditional methods including primary closure, skin graft, and local or free flap without complications.
Acellular Dermis ; Adenoma, Pleomorphic ; Adult ; Free Tissue Flaps ; Humans ; Palate, Soft ; Skin ; Transplants

PURPOSE: Genetic defects in the nuclear-encoded mitochondrial aminoacyl-tRNA synthetases were first identified as causes of various disorders in 2007. Variants in IARS2, which encodes a mitochondrial isoleucyl-tRNA synthetase, were first reported in 2014. These variants are associated with diverse phenotypes ranging from CAGSSS (CAtaracts, Growth hormone deficiency, Sensory neuropathy, Sensorineural hearing loss, and Skeletal dysplasia) and Leigh syndrome to isolated nonsyndromic cataracts. Here, we describe the phenotypic and genetic spectrum of Korean patients with IARS2-related disorders. MATERIALS AND METHODS: Using whole-exome sequencing followed by Sanger sequencing, we identified five patients with IARS2 mutations. Their medical records and brain magnetic resonance images were reviewed retrospectively. RESULTS: All five patients presented with developmental delay or regression before 18 months of age. Three patients had bilateral cataracts, but none had hearing loss or sensory neuropathy. No evidence of skeletal dysplasia was noted, but two had short stature. One patient had cardiomyopathy and another exhibited renal tubulopathy and hypoparathyroidism. Their brain imaging findings were consistent with Leigh syndrome. Interestingly, we found the recurrent mutations p.R817H and p.V105Dfs*7 in IARS2. CONCLUSION To our knowledge, this is the first report of Korean patients with IARS2-related disorders. Our findings broaden the phenotypic and genotypic spectrum of IARS2-related disorders in Korea and will help to increase clinical awareness of IARS2-related neurodegenerative diseases.

Cochlear implant extrusion, which is a common complication of cochlear implants, is generally repaired by a well visualized soft-tissue flap. A 61-year-old female patient with a medical history of schizophrenia who had a skin ulcer that caused cochlear implant extrusion, but that would be a stronger statement was referred to our department for removal of the implant and reconstruction of the resultant scalp defect. Accordingly, the broad defect was covered via rotation of a temporoparietal fascia flap (TPFF) using the superficial temporal artery, with the pedicle in the preauricular region as the pivot point. Coverage of TPFF was achieved with a split-thickness skin graft using the scalp as the donor site, which led to a quick recovery after the operation and satisfactory results in terms of aesthetics. This case suggests that a TPFF might be used as a flexible flap with low donor site morbidity for reconstructing cases of cochlear implant extrusion accompanied by a large full-layer scalp defect.
Cochlear Implants ; Esthetics ; Fascia ; Female ; Humans ; Middle Aged ; Reconstructive Surgical Procedures ; Scalp ; Schizophrenia ; Skin Ulcer ; Skin ; Surgical Flaps ; Temporal Arteries ; Tissue Donors ; Transplants

No abstract available.
Moyamoya Disease

BACKGROUND: Chromosomal microarray (CMA) testing is a first-tier test for patients with developmental delay, autism, or congenital anomalies. It increases diagnostic yield for patients with developmental delay or intellectual disability. In some countries, including Korea, CMA testing is not yet implemented in clinical practice. We assessed the diagnostic utility of CMA testing in a large cohort of patients with developmental delay or intellectual disability in Korea. METHODS: We conducted a genome-wide microarray analysis of 649 consecutive patients with developmental delay or intellectual disability at the Seoul National University Children's Hospital. Medical records were reviewed retrospectively. Pathogenicity of detected copy number variations (CNVs) was evaluated by referencing previous reports or parental testing using FISH or quantitative PCR. RESULTS: We found 110 patients to have pathogenic CNVs, which included 100 deletions and 31 duplications of 270 kb to 30 Mb. The diagnostic yield was 16.9%, demonstrating the diagnostic utility of CMA testing in clinic. Parental testing was performed in 66 patients, 86.4% of which carried de novo CNVs. In eight patients, pathogenic CNVs were inherited from healthy parents with a balanced translocation, and genetic counseling was provided to these families. We verified five rarely reported deletions on 2p21p16.3, 3p21.31, 10p11.22, 14q24.2, and 21q22.13. CONCLUSIONS: This study demonstrated the clinical utility of CMA testing in the genetic diagnosis of patients with developmental delay or intellectual disability. CMA testing should be included as a clinical diagnostic test for all children with developmental delay or intellectual disability.
Autistic Disorder ; Child* ; Cohort Studies ; Diagnosis ; Diagnostic Tests, Routine ; Genetic Counseling ; Humans ; Intellectual Disability* ; Korea ; Medical Records ; Microarray Analysis ; Parents ; Polymerase Chain Reaction ; Retrospective Studies ; Seoul ; Virulence

PURPOSE: To evaluate the effect of adjuvant external beam radiation therapy (EBRT) on local failure-free survival rate (LFFS) for papillary thyroid cancer (PTC) invading the trachea. MATERIALS AND METHODS: Fifty-six patients with locally advanced PTC invading the trachea were treated with surgical resection. After surgery, 21 patients received adjuvant EBRT and radioactive iodine therapy (EBRT group) and 35 patients were treated with radioactive iodine therapy (control group). RESULTS: The age range was 26–87 years (median, 56 years). The median follow-up period was 43 months (range, 4 to 145 months). EBRT doses ranged from 50.4 to 66 Gy (median, 60 Gy). Esophagus invasion and gross residual disease was more frequent in the EBRT group. In the control group, local recurrence developed in 9 (9/35, 26%) and new distant metastasis in 2 (2/35, 6%) patients, occurring 4 to 68 months (median, 37 months) and 53 to 68 months (median, 60 months) after surgery, respectively. Two patients had simultaneous local recurrence and new distant metastasis. There was one local failure in the EBRT group at 18 months after surgery (1/21, 5%). The 5-year LFFS was 95% in the EBRT group and 63% in the control group (p = 0.103). In the EBRT group, one late grade 2 xerostomia was developed. CONCLUSION: Although, EBRT group had a higher incidence of esophagus invasion and gross residual disease, EBRT group showed a better 5-year LFFS. Adjuvant EBRT may have contributed to the better LFFS in these patients.
Esophagus ; Follow-Up Studies ; Humans ; Incidence ; Iodine ; Neoplasm Metastasis ; Radiotherapy ; Recurrence ; Survival Rate ; Thyroid Gland* ; Thyroid Neoplasms* ; Trachea* ; Xerostomia

BACKGROUND AND PURPOSE: Few studies have analyzed the clinical course and functional outcome in Leigh syndrome (LS). The aim of this study was to determine the clinical, radiological, biochemical, and genetic features of patients with LS, and identify prognostic indicators of the disease progression and neurological outcome. METHODS: Thirty-nine patients who had been diagnosed with LS at the Seoul National University Children's Hospital were included. Their medical records, neuroimaging findings, and histological/biochemical findings of skeletal muscle specimens were reviewed. Targeted sequencing of mitochondrial DNA was performed based on mitochondrial respiratory chain (MRC) enzyme defects. RESULTS: Isolated complex I deficiency was the most frequently observed MRC defect (in 42% of 38 investigated patients). Mitochondrial DNA mutations were identified in 11 patients, of which 81.8% were MT-ND genes. The clinical outcome varied widely, from independent daily activity to severe disability. Poor functional outcomes and neurological deterioration were significantly associated with early onset (before an age of 1 year) and the presence of other lesions additional to basal ganglia involvement in the initial neuroimaging. CONCLUSIONS: The neurological severity and outcome of LS may vary widely and be better than those predicted based on previous studies. We suggest that age at onset and initial neuroimaging findings are prognostic indicators in LS.
Basal Ganglia ; Disease Progression ; DNA, Mitochondrial ; Electron Transport ; Humans ; Leigh Disease* ; Medical Records ; Muscle, Skeletal ; Neuroimaging ; Seoul

Sclerosing stromal tumor (SST) was first delineated as a distinct ovarian sex cord stromal tumor in 1973 by Chalvardjian and Scully. It is a benign neoplasm, distinguished from other ovarian stromal tumors by the production of collagen and a pseudolobular pattern, and it tends to occur in the second and third decades of life in diagnosed patients. We discovered two rare cases of SST in post-menopausal women which are the topic of this report. These case studies are accompanied by a brief review of the literature.
Collagen ; Female ; Humans ; Menopause ; Ovarian Neoplasms ; Ovary* ; Sex Cord-Gonadal Stromal Tumors