PURPOSE: Childhood asthma has a considerable social impact and economic burden, especially in severe asthma. This study aimed to identify the proportion of childhood asthma severity and to evaluate associated factors for greater asthma severity. METHODS: This study was performed on 667 children aged 5–15 years with asthma from the nationwide 19 hospitals in the Korean childhood Asthma Study (KAS). Asthma was classified as mild intermittent, mild persistent, and moderate/severe persistent groups according to the National Asthma Education and Prevention Program recommendations. Multinomial logistic regression models were used to identify the associated factors for greater asthma severity. RESULTS: Mild persistent asthma was most prevalent (39.0%), followed by mild intermittent (37.6%), moderate persistent (22.8%), and severe persistent asthma (0.6%). Onset later than 6 years of age (adjusted odds ratio [aOR], 1.69 for mild persistent asthma; aOR, 1.92 for moderate/severe persistent asthma) tended to increase asthma severity. Exposure to environmental tobacco smoke (aOR, 1.53 for mild persistent asthma; aOR, 1.85 for moderate/severe persistent asthma), and current dog ownership with sensitization to dog dander (aOR, 5.86 for mild persistent asthma; aOR, 6.90 for moderate/severe persistent asthma) showed increasing trends with greater asthma severity. Lower maternal education levels (aOR, 2.32) and no usage of an air purifier in exposure to high levels of outdoor air pollution (aOR, 1.76) were associated with moderate/severe persistent asthma. CONCLUSIONS: Modification of identified environmental factors associated with greater asthma severity might help better control childhood asthma, thereby reducing the disease burden due to childhood asthma.
Air Filters ; Air Pollution ; Animals ; Asthma ; Child ; Dander ; Dogs ; Education ; Environmental Exposure ; Humans ; Logistic Models ; Odds Ratio ; Ownership ; Risk Factors ; Smoke ; Social Change ; Tobacco

Adenocarcinoma ; Humans ; Linear Models ; Lung Neoplasms ; Lung ; Methods ; Neoplasm Metastasis ; Neoplastic Cells, Circulating ; Prognosis ; Propensity Score ; Tumor Burden

BACKGROUND AND PURPOSE: This study investigated the seizure recurrence rate and potential predictors of seizure recurrence following antiepileptic drug (AED) withdrawal after resective epilepsy surgery in children with focal cortical dysplasia (FCD). METHODS: We retrospectively analyzed the records of 70 children and adolescents with FCD types I, II, and IIIa who underwent resective epilepsy surgery between 2004 and 2015 and were followed for at least 2 years after surgery. RESULTS: We attempted AED withdrawal in 40 patients. The median time of starting the AED reduction was 10.8 months after surgery. Of these 40 patients, 14 patients (35%) experienced seizure recurrence during AED reduction or after AED withdrawal. Half of the 14 patients who experienced recurrence regained seizure freedom after AED reintroduction and optimization. Compared with their preoperative status, the AED dose or number was decreased in 57.1% of patients, and remained unchanged in 14.3% after surgery. A multivariate analysis found that incomplete resection (p=0.004) and epileptic discharges on the postoperative EEG (p=0.025) were important predictors of seizure recurrence after AED withdrawal. Over the mean follow-up duration of 4.5 years after surgery, 34 patients (48.6% of the entire cohort) were seizure-free with and without AEDs. CONCLUSIONS: Children with incomplete resection and epileptic discharges on postoperative EEG are at a high risk of seizure recurrence after drug withdrawal. Complete resection of FCD may lead to a favorable surgical outcome and successful AED withdrawal after surgery.
Adolescent ; Anticonvulsants ; Child* ; Electroencephalography ; Epilepsy ; Follow-Up Studies ; Freedom ; Humans ; Malformations of Cortical Development* ; Multivariate Analysis ; Recurrence* ; Retrospective Studies ; Seizures*

PURPOSE: Head and neck squamous cell carcinoma (HNSCC) is a deadly disease in which precision medicine needs to be incorporated. We aimed to implement next-generation sequencing (NGS) in determining actionable targets to guide appropriate molecular targeted therapy in HNSCC patients. MATERIALS AND METHODS: Ninety-three tumors and matched blood samples underwent targeted sequencing of 244 genes using the Illumina HiSeq 2500 platform with an average depth of coverage of greater than 1,000×. Clinicopathological data from patients were obtained from 17 centers in Korea, and were analyzed in correlation with NGS data. RESULTS: Ninety-two of the 93 tumors were amenable to data analysis. TP53 was the most common mutation, occurring in 47 (51%) patients, followed by CDKN2A (n=23, 25%), CCND1 (n=22, 24%), and PIK3CA (n=19, 21%). The total mutational burden was similar between human papillomavirus (HPV)–negative vs. positive tumors, although TP53, CDKN2A and CCND1 gene alterations occurred more frequently in HPV-negative tumors. HPV-positive tumors were significantly associated with immune signature-related genes compared to HPV-negative tumors. Mutations of NOTCH1 (p=0.027), CDKN2A (p < 0.001), and TP53 (p=0.038) were significantly associated with poorer overall survival. FAT1 mutations were highly enriched in cisplatin responders, and potentially targetable alterations such as PIK3CA E545K and CDKN2A R58X were noted in 14 patients (15%). CONCLUSION: We found several targetable genetic alterations, and our findings suggest that implementation of precision medicine in HNSCC is feasible. The predictive value of each targetable alteration should be assessed in a future umbrella trial using matched molecular targeted agents.
Biomarkers ; Carcinoma, Squamous Cell* ; Cisplatin ; Epithelial Cells* ; Head* ; Humans ; Korea ; Molecular Targeted Therapy ; Neck* ; Precision Medicine ; Statistics as Topic

PURPOSE: To discuss the clinical course and diagnosis of corneal dysplasia in a xeroderma pigmentosum patient based on a genetic evaluation. CASE SUMMARY: A 42-year-old female visited our clinic for decreased left visual acuity and corneal opacity. She had undergone several surgeries previously due to the presence of basosquamous carcinoma in the left lower eyelid, neurofibroma, and malignant melanoma of the facial skin. The patient showed repeated corneal surface problems, with a suspicious dendritic lesion; however, antiviral therapy was ineffective, and herpes simplex virus polymerase chain reaction results were negative. Despite regular follow-ups, the patient showed neovascularization around the corneal limbus and an irregular corneal surface. We performed corneal debridement with autologous serum eye drops for treatment. The patient's visual acuity and corneal surface improved after the procedure. The impression cytology result was corneal dysplasia. In whole exome sequencing, two pathogenic variants and one likely pathogenic variant of the POLH gene were detected. CONCLUSIONS: This is the first genetically identified xeroderma pigmentosum case with ophthalmological lesions of the eyelid and cornea in Korea. Debridement of the irregular corneal surface and autologous serum eye drop administration in xeroderma pigmentosum could be helpful for improving visual acuity.
Adult ; Carcinoma, Basosquamous ; Cornea ; Corneal Opacity ; Debridement ; Diagnosis ; Exome ; Eyelids ; Female ; Follow-Up Studies ; Humans ; Ichthyosis ; Korea ; Limbus Corneae ; Melanoma ; Neurofibroma ; Ophthalmic Solutions ; Polymerase Chain Reaction ; Simplexvirus ; Skin ; Visual Acuity ; Xeroderma Pigmentosum

BACKGROUND AND OBJECTIVES: Patients with Kawasaki disease (KD) are clinically heterogeneous because its diagnosis is based solely on clinical observation and there are no definitive biomarkers. We dissected the clinical heterogeneity of KD patients using the KD-associated genetic variants. METHODS: We performed a genetic association analysis in several KD subgroups categorized by clinical characteristics using the KD-associated variants of the B lymphoid tyrosine kinase (BLK; rs6993775) and Fc gamma receptor II a (FCGR2A; rs1801274) in a large number of case (n=1,011) and control (n=4,533) samples. RESULTS: BLK and FCGR2A were very significantly associated with KD in Korean KD patients (odds ratio [OR],1.48; p=4.63×10⁻¹¹ for BLK, and OR, 1.26; p=1.42×10⁻⁴ for FCGR2A). However, in KD subgroup analysis, we found that neither BLK nor FCGR2A were associated with either incomplete Kawasaki disease (iKD) type patients or those older than 5 years of age (p>0.2), suggesting that patients with iKD or those older than 5 years of age are a unique subgroup of KD. In genetic association analysis after excluding iKD patients and those older than 5 years old, we found that BLK was associated with all KD subgroups, whereas FCGR2A was specifically associated with male KD patients younger than 1 year of age (OR, 2.22; p=2.35×10⁻⁵). CONCLUSIONS: KD is a clinically and genetically heterogeneous disease. These findings will provide new insights into the clinical and genetic heterogeneity of KD.
Biomarkers ; Diagnosis ; Genetic Heterogeneity ; Genome-Wide Association Study ; Humans ; Male ; Mucocutaneous Lymph Node Syndrome ; Polymorphism, Single Nucleotide ; Population Characteristics ; Protein-Tyrosine Kinases

PURPOSE: Adherence is a major component of successful medical treatment. However, non-adherence remains a barrier to effective delivery of healthcare worldwide. METHODS: Twenty healthcare facilities (secondary or tertiary hospitals) belonging to the Korean Academy of Pediatric Allergy and Respiratory Diseases (KAPARD) participated. Questionnaires were given to patients currently receiving treatment in the form of inhalant useor oral intake or transdermal patch for mild to moderate asthma. RESULTS: A total of 1,838 patients responded to the questionnaire. Mean age was 5.98 ± 3.79 years (range: 0-18 years). With help from their caregivers, the percentage of patients that answered “taking as prescribed” was 38.04% for inhalant users, 50.09% for oral medication users and 67.42% for transdermal users. Transdermal patch users had significantly greater adherence compared to the other 2 groups (P < 0.001). The 34.15% of inhalant users, 70.33% of oral medication users and 93.00% of transdermal patch users felt that their medication delivery system was “Easy” or “Very easy” to use (P < 0.001). “Method of administration” was deemed to be the most difficult part of the treatment regimen to follow, and 76.7% of patients preferred once-daily administration (i.e., “Frequency of administration”). CONCLUSIONS: Asthma medication adherence in young children was found to be better in the transdermal patch group. This may be due to requiring fewer doses and easy to follow instructions. From an adherence point of view, the transdermal patch seems more useful for long-term asthma control in children compared to oral or inhaled medicine.
Asthma ; Caregivers ; Child ; Delivery of Health Care ; Humans ; Hypersensitivity ; Korea ; Medication Adherence ; Transdermal Patch

This erratum is being published to correct the error on page 650 of the article. The number of participating research institution should be corrected.

BACKGROUND: Granulocyte transfusion (GTx) is performed as a supportive therapy in severe neutropenic patients caused by various conditions. The study aimed to analyze the hematologic parameters of donors, patients, and granulocyte concentrates to predict successful GTx. METHODS: This study was performed in 281 donors, with their granulocyte concentrates being collected through apheresis, and in 54 severe neutropenic patients who had various hematologic diseases. Complete blood cell counts of donors pre- and post-apheresis, granulocyte concentrates, and patients pre- and post-GTx were analyzed. Patients were divided into two groups according to survival at discharge (Group S, survival; Group D, dead) to compare various factors including age, infection status, pre- and post-GTx total white blood cell counts (TWBCC) and absolute neutrophil counts (ANC), total number of GTx, infused TWBCC and ANC per weight, and use of G-CSF during therapy. RESULTS: Overall data of patients showed that both TWBCC and ANC were significantly increased after GTx (median values at pre-GTx, TWBCC=0.40×109/L, ANC=0.14×109/L; post-GTx, TWBCC=0.57×109/L, ANC=0.29×109/L, both P<0.0001). After GTx, Group S (N=25) showed significantly higher TWBCC and ANC than Group D (N=29) (P=0.01 and P=0.04, respectively). Using different cutoff levels, post-GTx TWBCC greater than 0.5×109/L showed statistically significant difference between the two groups (P<0.01). None of the other factors showed statistically significant differences. CONCLUSION: The TWBCC and ANC after GTx were significant factors to predict patients' outcome. Therefore, follow-up of those two parameters may be helpful to select or consider other therapeutic modalities including additional GTx.
Blood Cell Count ; Blood Component Removal ; Follow-Up Studies ; Granulocyte Colony-Stimulating Factor ; Granulocytes ; Hematologic Diseases ; Humans ; Leukocyte Count ; Neutropenia ; Neutrophils ; Tissue Donors

PURPOSE: Routine supplementation of high-dose calcium significantly decreased the risk of postoperative symptomatic hypocalcemia after thyroidectomy. However, there is an ongoing debate about whether the same results can be achieved with low-dose calcium supplementation. METHODS: Patients (n = 138) who underwent total thyroidectomy for thyroid cancer were 1:1 randomly assigned to receive oral supplements of 1,500 mg/day elemental calcium and 1,000 IU/day cholecalciferol for 2 weeks or no supplementation. Primary objective was to compare the incidence of symptomatic hypocalcemia for 3 days after total thyroidectomy. Secondary objective was to find the predictors for postoperative hypocalcemia in patients with thyroid cancer. RESULTS: Sixty-five patients in the calcium group and 69 patients in the control group were finally analyzed. The incidence of symptomatic hypocalcemia showed no difference between the calcium and control group (32.3% vs. 21.7%, P = 0.168). The total dosage of intravenous calcium (593.4 ± 267.1 mg vs. 731.6 ± 622.7 mg, P = 0.430) administered to patients with symptomatic hypocalcemia was also comparable between groups. In a multivariate analysis, parathyroid hormone level of 13 pg/mL at postoperative day 1 was only predictive for symptomatic hypocalcemia, and its incidence was 20.9 times (95% confidence interval, 6.8–64.5) higher in patients with parathyroid hormone <13 pg/mL. Other factors did not predict the development of hypocalcemia, including clinicopathological features and routine supplementation of low-dose calcium. CONCLUSION: Routine low-dose calcium supplementation did not reduce the risk of postoperative hypocalcemia. Patients who may benefit from calcium supplementation should be carefully selected.
Calcium ; Cholecalciferol ; Humans ; Hypocalcemia ; Hypoparathyroidism ; Incidence ; Multivariate Analysis ; Parathyroid Hormone ; Prospective Studies ; Thyroid Neoplasms ; Thyroidectomy