Purpose: To report a nationwide survey on neuroblastoma conducted by the Korean Association of Pediatric Surgeons (KAPS) in 2020. Methods: The clinical data of pediatric patients diagnosed with and treated for neuroblastoma from 2005 to 2019 in 19 hospitals of KAPS members were collected. Survival and prognostic factor analyses were performed using the log rank test and Cox proportional hazard analysis. A p-value <0.05 was considered significant. Results: A total of 669 patients with neuroblastoma were registered for the study. The results were presented and discussed at the 36th annual meeting of the KAPS, which was held in Seoul on August 21, 2020. Conclusion This study provides information on patient demographics, prognostic outcomes, and comprehensive treatment outcomes for neuroblastoma. The study is expected to be an important reference for improving pediatric surgeons’ understanding and treatment of neuroblastoma.

Background: The Jr a antigen is a high-prevalence red blood cell (RBC) antigen. Reports on cases of fatal hemolytic disease of the fetus and newborn and acute hemolytic transfusion reactions suggest that antibodies against Jr a (anti-Jra ) have potential clinical significance.Identifying anti-Jra is challenging owing to a lack of commercially available antisera. We developed an alternative approach to rapidly predict the presence of anti-Jra using the TaqMan single-nucleotide polymorphism (SNP)-genotyping method. Methods: Residual peripheral blood samples from 10 patients suspected of having the anti-Jr a were collected. Two samples with confirmed Jr(a–) RBCs and anti-Jra were used to validate the TaqMan genotyping assay by comparing the genotyping results with direct sequencing. The accuracy of the assay in predicting the presence of anti-Jra was verified through crossmatching with in-house Jr(a–) O+ RBCs. Results: The TaqMan-genotyping method was validated with two Jr(a–) RBC- and anti-Jra -confirmed samples that showed concordant Jr a genotyping and direct sequencing results.Jra genotyping for the remaining samples and crossmatching the serum samples with inhouse Jr(a–) O+ RBCs showed consistent results. Conclusions We validated a rapid, simple, accurate, and cost-effective method for predicting the presence of anti-Jra using a TaqMan-based SNP-genotyping assay. Implementing this method in routine practice in clinical laboratories will assist in solving difficult problems regarding alloantibodies to high-prevalence RBC antigens and ultimately aid in providing safe and timely transfusions and proper patient care.

Background: The Jr a antigen is a high-prevalence red blood cell (RBC) antigen. Reports on cases of fatal hemolytic disease of the fetus and newborn and acute hemolytic transfusion reactions suggest that antibodies against Jr a (anti-Jra ) have potential clinical significance.Identifying anti-Jra is challenging owing to a lack of commercially available antisera. We developed an alternative approach to rapidly predict the presence of anti-Jra using the TaqMan single-nucleotide polymorphism (SNP)-genotyping method. Methods: Residual peripheral blood samples from 10 patients suspected of having the anti-Jr a were collected. Two samples with confirmed Jr(a–) RBCs and anti-Jra were used to validate the TaqMan genotyping assay by comparing the genotyping results with direct sequencing. The accuracy of the assay in predicting the presence of anti-Jra was verified through crossmatching with in-house Jr(a–) O+ RBCs. Results: The TaqMan-genotyping method was validated with two Jr(a–) RBC- and anti-Jra -confirmed samples that showed concordant Jr a genotyping and direct sequencing results.Jra genotyping for the remaining samples and crossmatching the serum samples with inhouse Jr(a–) O+ RBCs showed consistent results. Conclusions We validated a rapid, simple, accurate, and cost-effective method for predicting the presence of anti-Jra using a TaqMan-based SNP-genotyping assay. Implementing this method in routine practice in clinical laboratories will assist in solving difficult problems regarding alloantibodies to high-prevalence RBC antigens and ultimately aid in providing safe and timely transfusions and proper patient care.

Background: The Jr a antigen is a high-prevalence red blood cell (RBC) antigen. Reports on cases of fatal hemolytic disease of the fetus and newborn and acute hemolytic transfusion reactions suggest that antibodies against Jr a (anti-Jra ) have potential clinical significance.Identifying anti-Jra is challenging owing to a lack of commercially available antisera. We developed an alternative approach to rapidly predict the presence of anti-Jra using the TaqMan single-nucleotide polymorphism (SNP)-genotyping method. Methods: Residual peripheral blood samples from 10 patients suspected of having the anti-Jr a were collected. Two samples with confirmed Jr(a–) RBCs and anti-Jra were used to validate the TaqMan genotyping assay by comparing the genotyping results with direct sequencing. The accuracy of the assay in predicting the presence of anti-Jra was verified through crossmatching with in-house Jr(a–) O+ RBCs. Results: The TaqMan-genotyping method was validated with two Jr(a–) RBC- and anti-Jra -confirmed samples that showed concordant Jr a genotyping and direct sequencing results.Jra genotyping for the remaining samples and crossmatching the serum samples with inhouse Jr(a–) O+ RBCs showed consistent results. Conclusions We validated a rapid, simple, accurate, and cost-effective method for predicting the presence of anti-Jra using a TaqMan-based SNP-genotyping assay. Implementing this method in routine practice in clinical laboratories will assist in solving difficult problems regarding alloantibodies to high-prevalence RBC antigens and ultimately aid in providing safe and timely transfusions and proper patient care.

Background: The Jr a antigen is a high-prevalence red blood cell (RBC) antigen. Reports on cases of fatal hemolytic disease of the fetus and newborn and acute hemolytic transfusion reactions suggest that antibodies against Jr a (anti-Jra ) have potential clinical significance.Identifying anti-Jra is challenging owing to a lack of commercially available antisera. We developed an alternative approach to rapidly predict the presence of anti-Jra using the TaqMan single-nucleotide polymorphism (SNP)-genotyping method. Methods: Residual peripheral blood samples from 10 patients suspected of having the anti-Jr a were collected. Two samples with confirmed Jr(a–) RBCs and anti-Jra were used to validate the TaqMan genotyping assay by comparing the genotyping results with direct sequencing. The accuracy of the assay in predicting the presence of anti-Jra was verified through crossmatching with in-house Jr(a–) O+ RBCs. Results: The TaqMan-genotyping method was validated with two Jr(a–) RBC- and anti-Jra -confirmed samples that showed concordant Jr a genotyping and direct sequencing results.Jra genotyping for the remaining samples and crossmatching the serum samples with inhouse Jr(a–) O+ RBCs showed consistent results. Conclusions We validated a rapid, simple, accurate, and cost-effective method for predicting the presence of anti-Jra using a TaqMan-based SNP-genotyping assay. Implementing this method in routine practice in clinical laboratories will assist in solving difficult problems regarding alloantibodies to high-prevalence RBC antigens and ultimately aid in providing safe and timely transfusions and proper patient care.

Differentiated thyroid cancer demonstrates a wide range of clinical presentations, from very indolent cases to those with an aggressive prognosis. Therefore, diagnosing and treating each cancer appropriately based on its risk status is important. The Korean Thyroid Association (KTA) has provided and amended the clinical guidelines for thyroid cancer management since 2007. The main changes in this revised 2024 guideline include 1) individualization of surgical extent according to pathological tests and clinical findings, 2) application of active surveillance in low-risk papillary thyroid microcarcinoma, 3) indications for minimally invasive surgery, 4) adoption of World Health Organization pathological diagnostic criteria and definition of terminology in Korean, 5) update on literature evidence of recurrence risk for initial risk stratification, 6) addition of the role of molecular testing, 7) addition of definition of initial risk stratification and targeting thyroid stimulating hormone (TSH) concentrations according to ongoing risk stratification (ORS), 8) addition of treatment of perioperative hypoparathyroidism, 9) update on systemic chemotherapy, and 10) addition of treatment for pediatric patients with thyroid cancer.

Purpose: This study provides insights into the prevalence at birth, clinical characteristics, and outcomes of gastroschisis and omphalocele in Korea over the past decade, addressing the lack of localized data despite advanced healthcare capabilities. Methods: The study retrospectively analyzed data from 20 pediatric surgical centers in Korea from January 2012 to December 2021, including 269 patients diagnosed with gastroschisis or omphalocele. Data variables included gender, gestational age, birth weight, associated anomalies, type of defect, surgical interventions, and outcomes. Results: The study covered 269 patients, with 80 gastroschisis and 189 omphalocele cases. Gastroschisis prevalence at birth remained stable at 2.15 per 100,000 live births, while omphalocele increased to 5.08 per 100,000. Both conditions had similar gender ratios (0.95). Gastroschisis patients had lower birth weights (2,463.90±505.50 g) and smaller head circumferences (31.97±1.86 cm) compared to omphalocele patients (2,757.65±761.24 g, 32.78±2.64 cm). Omphalocele cases had more associated anomalies, especially cardiovascular issues. Prenatal diagnosis rates were high: 93.7% for gastroschisis and 86.4% for omphalocele. About 96.3% of gastroschisis and 84.1% of omphalocele patients were born in their treatment hospitals. Gastroschisis patients underwent surgery sooner (average 3.5 days) and started feeding later (16.5 days) than omphalocele patients (average 56.5 days to surgery, 6.6 days to start feeding). Hospital stays and follow-up durations were similar, averaging around 782.6 days for gastroschisis and 800.3 days for omphalocele patients. Survival rates were 89.7% for gastroschisis and 87.1% for omphalocele. Conclusion The study highlights the need for early diagnosis, centralized care, and specialized surgical approaches to optimize outcomes for gastroschisis and omphalocele patients in Korea. Enhanced prenatal screening and surgical protocols are recommended to improve these patients' prognosis.

OBJECTIVE: Carotid artery stenting is helpful in patients with carotid artery stenosis and is a common method of treatment. However, data on the neurological consequences that might arise from, especially Asian patients after CAS is not enough. The purpose of this study was to investigate the outcome and prognostic factors affecting CAS patients.METHODS: From January 2013 to June 2018 it was enrolled 97 patients who underwent CAS with severe carotid artery stenosis in a single institution. We retrospectively reviewed neurologic complications such as restenosis, ipsilateral or contralateral stroke, and hyperperfusion during the 6-month follow-up period.RESULTS: There were no complication occured during the procedure in all 97 patients. Neurologic complications occurred in 30 patients (30.9%) after the procedure, and ipsilateral stroke 6 (6.2%), contralateral stroke 9 (9.4%), restenosis 2 (2.1%) and hyperperfusion 13 respectively. One of them had died (1.0%), of which the rest were discharged after symptoms improve. On univariate analysis, DM and pre-op NIHSS score was associated with the risk of CAS complication, exclusively. On the binary logistic regression for risk factors, DM (OR 0.144, 95% CI [0.029–0.718]), history of radiotheraphy (OR 36.103, 95% CI [1.009–1291.789]) and preoperative NIHSS (OR 1.266, 95% CI [1.059–1.513]) showed independent risk factors associated with post procedural neurological complications, statistically.CONCLUSION: Carotid artery stenting is a relatively safe and reliable long-term outcome for patients with carotid artery stenosis. However, careful observation should be taken after procedure immediately for any possible complications.
Asian Continental Ancestry Group ; Carotid Arteries ; Carotid Stenosis ; Endovascular Procedures ; Follow-Up Studies ; Humans ; Logistic Models ; Methods ; Postoperative Complications ; Retrospective Studies ; Risk Factors ; Stents ; Stroke

PURPOSE: We aimed to identify the impact of NUDT15 variants on thiopurine intolerance and 6-thioguanine nucleotide (6-TGN) levels in Korean children with acute lymphoblastic leukemia (ALL). MATERIALS AND METHODS: Genotyping of NUDT15 was tested in 258 patients with ALL registered at Samsung Medical Center. Patients were classified into normal-activity (wild-type), intermediate-activity (heterozygous variant), and low-activity groups (homozygous or compound heterozygous variant). Clinical and laboratory features during the first year of maintenance therapy were investigated. RESULTS: A total of 182 patients were included in the final analysis. There were five (2.7%), 46 (25.3%), and 131 (72.0%) patients in low-, intermediate-, and normal-activity groups, respectively. The lowest 6-mercaptopurine (6-MP) dose (mg/m2/day) was administered to the low-activity group (low-activity group 7.5 vs. intermediate-activity group 24.4 vs. normalactivity group 31.1, p < 0.01) from three months to a year after beginning maintenance therapy. The low-activity group experienced the longest duration of therapy interruption during the first year (low-activity group 169 days vs. intermediate-activity group 30 days vs. normal-activity group 16 days, p < 0.01). They also showed the lowest blood cell counts and had a longer duration of leukopenia (low-activity group 131 days vs. intermediate-activity group 92 days vs. normal-activity group 59 days, p < 0.01). 6-TGN level and its ratio to 6-MP dose were lowest in the low-activity group. CONCLUSION: NUDT15 variants cause hematopoietic toxicity with low 6-TGN levels. NUDT15 genotyping should be conducted before administering thiopurine, and dose adjustments require caution regardless of 6-TGN levels.
6-Mercaptopurine ; Blood Cell Count ; Child* ; Humans ; Leukemia ; Leukopenia ; Precursor Cell Lymphoblastic Leukemia-Lymphoma* ; Thioguanine

BACKGROUND: Isocitrate dehydrogenase (IDH) catalyzes the oxidative decarboxylation of isocitrate to yield alpha-ketoglutarate (alpha-KG) with production of reduced nicotinamide adenine dinucleotide (NADH). Dysfunctional IDH leads to reduced production of alpha-KG and NADH and increased production of 2-hydroxyglutarate, an oncometabolite. This results in increased oxidative damage and stabilization of hypoxia-inducible factor alpha, causing cells to be prone to tumorigenesis. METHODS: This study investigated IDH mutations in 61 Ewing sarcoma family tumors (ESFTs), using a pentose nucleic acid clamping method and direct sequencing. RESULTS: We identified four cases of ESFTs harboring IDH mutations. The number of IDH1 and IDH2 mutations was equal and the subtype of IDH mutations was variable. Clinicopathologic analysis according to IDH mutation status did not reveal significant results. CONCLUSIONS: This study is the first to report IDH mutations in ESFTs. The results indicate that ESFTs can harbor IDH mutations in previously known hot-spot regions, although their incidence is rare. Further validation with a larger case-based study would establish more reliable and significant data on prevalence rate and the biological significance of IDH mutations in ESFTs.
Carcinogenesis ; Constriction ; Decarboxylation ; Humans ; Incidence ; Isocitrate Dehydrogenase ; NAD ; Prevalence ; Sarcoma, Ewing*