A Study on the Awareness and Need for Connected-Convergence Education among College Students in Health-Related Fields / 치위생과학회지

Background@#In modern society, rapid changes in the medical environment have required medical staff to access various information and be competent in active and effective problem-solving through collegial interactions. In line with these changes, universities are aiming to connect education. This study aimed to provide basic data of connected-convergence education by survey the awareness and needs of college students in health-related fields. @*Methods@#This study included 122 college students from the health field. A survey regarding “the awareness and need of connected-convergence education” was conducted and general characteristics of the participants were collected from June to July 2022. @*Results@#The awareness of connected-convergence education was low at 19.7%, but the intention to participate was high at 74.6%. Subject requirements were 18.0% for medical psychology, 13.5% for communication and counseling, 13.5% for medical artificial intelligence technology convergence, and 10.4% for sports health management. In the group showing high satisfaction with the major curriculum, the demand for connected education was also high. For efficient operation, it was investigated that it was necessary to secure specialized training courses, recognition of liberal arts credits, the right to register for courses equal to those of major students, and secure dedicated classrooms. @*Conclusion@#Although the awareness and experience of connected-convergence education among the participants were low, the intention to participate was high. As such a plan to revitalize the university curriculum was required. It is timely to discuss the nurturing of convergence-type talents and multidisciplinary thinking skills. It is meaningful to provide basic data necessary for connected-convergence education in health-related fields at university. Universities should strive to enhance job competency in the health field by providing connected-convergence education based on student demands.

Iron Deficiency Anemia / 임상소아혈액종양

Iron deficiency anemia (IDA) is a common medical problem that affects an estimated 30-50% of the world’s population. The causes of IDA are malnutrition, rapid growth with improper dietary iron, blood loss through gastrointestinal tract or menstruation. The genetic factors of iron-refractory iron deficiency anemia have also been identified. Previous studies on the theory of hepcidin-based homeostatic regulation have helped increase our understanding of iron metabolism. Symptoms of anemia may include non-specific symptoms, such as pale appearance, fatigue, weakness, and decreased appetite, as well as impaired neurocognitive functions, including delay mental development and restless leg syndrome. IDA can be diagnosed by laboratory findings. The conventional tests that are typically performed to diagnose IDA include hemoglobin level, serum iron, transferrin saturation, and ferritin level, as well as soluble transferrin receptor, hepcidin level, zinc protoporphyrin, reticulocyte hemoglobin content. Treatment begins with an accurate diagnosis, and both oral and parenteral iron can be used. Symptoms improve quickly after treatment; however, the diagnosis and treatment of IDA is rather overlooked. Therefore, it is necessary to better understand the disease process of IDA, make an accurate diagnosis, and prescribe essential iron supplements to patients with symptoms.

Epidemiological Study of Hereditary Hemolytic Anemia in the Korean Pediatric Population during 1997–2016: a Nationwide Retrospective Cohort Study

Background@#Hereditary hemolytic anemia (HHA) is a rare disease characterized by premature red blood cell (RBC) destruction due to intrinsic RBC defects. The RBC Disorder Working Party of the Korean Society of Hematology established and updated the standard operating procedure for making an accurate diagnosis of HHA since 2007. The aim of this study was to investigate a nationwide epidemiology of Korean HHA. @*Methods@#We collected the data of a newly diagnosed pediatric HHA cohort (2007–2016) and compared this cohort's characteristics with those of a previously surveyed pediatric HHA cohort (1997–2006) in Korea. Each participant's information was retrospectively collected by a questionnaire survey. @*Results@#A total of 369 children with HHA from 38 hospitals distributed in 16 of 17 districts of Korea were investigated. RBC membranopathies, hemoglobinopathies, RBC enzymopathies, and unknown etiologies accounted for 263 (71.3%), 59 (16.0%), 23 (6.2%), and 24 (6.5%) of the cases, respectively. Compared to the cohort from the previous decade, the proportions of hemoglobinopathies and RBC enzymopathies significantly increased (P < 0.001 and P = 0.008, respectively). Twenty-three of the 59 hemoglobinopathy patients had immigrant mothers, mostly from South-East Asia. @*Conclusion@#In Korea, thalassemia traits have increased over the past 10 years, reflecting both increased awareness of this disease and increased international marriages. The enhanced recognition of RBC enzymopathies is due to advances in diagnostic technique; however, 6.5% of HHA patients still do not have a clear diagnosis. It is necessary to improve accessibility of diagnosing HHA.

NUDT15 Variants Cause Hematopoietic Toxicity with Low 6-TGN Levels in Children with Acute Lymphoblastic Leukemia / Journal of the Korean Cancer Association, 대한암학회지

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.

Clinical Significance of Tyrosine Hydroxylase mRNA Transcripts in Peripheral Blood at Diagnosis in Patients with Neuroblastoma / Journal of the Korean Cancer Association, 대한암학회지

PURPOSE: The purpose of this study is to investigate the clinical significance of tyrosine hydroxylase (TH) expression in peripheral blood (PB) at diagnosis in patients with neuroblastoma. MATERIALS AND METHODS: TH mRNA expression in PB was measured by reverse transcription quantitative real-time polymerase chain reaction in 210 patients who were newly diagnosed with neuroblastoma from July 2005 to June 2015 and the clinical significance of TH expression in PB at diagnosis was evaluated. RESULTS: TH expression was positive in 60 patients (28.6%). Fifty of 60 TH-positive patients had metastatic tumors and the remaining 10 had localized tumors. TH expression was associated with high-risk features (i.e., advanced stage, older age, unfavorable pathology, and MYCN amplification) at diagnosis. Among TH-positive patients, higher TH expression level was observed in high-risk patients than in low- or intermediate-risk patients (p=0.035). The probability of 5-year progression-free survival (PFS) was lower in TH-positive patients than in TH-negative patients (63.8±6.9% vs. 94.7±2.1%, p < 0.001). In analysis confined to high-risk patients, the 5-year probability of PFS remained lower in TH-positive patients (55.7±8.2% vs. 89.6±5.8%, p < 0.001). Among TH-positive patients, a higher expression level of TH was associated with a worse outcome. In multivariate analyses, positive TH expression in PB at diagnosis was an independent poor prognostic factor for PFS. CONCLUSION: The treatment intensity should be tailored according to TH expression in PB at diagnosis.

Clinical Significance of Persistent Tumor in Bone Marrow during Treatment of High-risk Neuroblastoma

The records of 63 high-risk neuroblastoma patients with bone marrow (BM) tumors at diagnosis were retrospectively reviewed. All patients received nine cycles of induction chemotherapy followed by tandem high-dose chemotherapy and autologous stem cell transplantation (HDCT/auto-SCT). Follow-up BM examination was performed every three cycles during induction chemotherapy and every three months for one year after the second HDCT/auto-SCT. BM tumor cells persisted in 48.4%, 37.7%, 23.3%, and 20.4% of patients after three, six, and nine cycles of induction chemotherapy and three months after the second HDCT/auto-SCT, respectively. There was no difference in progression-free survival (PFS) rate between patients with persistent BM tumor and those without during the induction treatment. However, after tandem HDCT/auto-SCT, the PFS rate was worse in patients with persistent BM tumor than in those without (probability of 5-yr PFS 14.7% +/- 13.4% vs. 64.2% +/- 8.3%, P = 0.009). Persistent BM tumor during induction treatment is not associated with a worse prognosis when intensive tandem HDCT/auto-SCT is given as consolidation treatment. However, persistent BM tumor after tandem HDCT/auto-SCT is associated with a worse prognosis. Therefore, further treatment might be needed in patients with persistent BM tumor after tandem HDCT/auto-SCT.

Prognostic factors in children with extracranial germ cell tumors treated with cisplatin-based chemotherapy / 소아과

PURPOSE: To evaluate the outcomes and prognostic factors in children with extracranial germ cell tumors (GCTs) treated at a single institution. METHODS: Sixty-six children diagnosed with extracranial GCTs between 1996 and 2012 were included in the study. Primary treatment was surgical excision, followed by six cycles of cisplatin-based chemotherapy. The survival rates were compared according to the International Germ Cell Cancer Cooperative Group classification used for GCTs in adults to validate the classification guidelines for GCTs in children. RESULTS: The median patient age was 4.4 years. In 34 patients (51.5%), the primary tumor site was the gonad. Extragonadal GCTs were detected in 32 patients. The 5-year overall survival and event-free survival (EFS) were 92.0%+/-3.5% and 90.4%+/-3.7%, respectively. In univariate analysis, tumor histology, metastasis, and elevated alpha-fetoprotein were not prognostic factors in children with extracranial GCTs. However, EFS was poorer in patients with mediastinal disease (n=12, 66.7%+/-13.6 %) than in those with nonmediastinal disease (n=54, 96.0%+/-2.8%) (P=0.001). The 5-year EFS was lower in patients older than 10 years, (n=21, 80.0%+/-8.9%) compared with those younger than 10 years (n=45, 95.2%+/-3.3%) (P=0.04). Multivariate analysis identified the mediastinal tumor site as the only independent prognostic factor. CONCLUSION: The prognosis of children with extracranial GCTs was favorable. However, nongerminomatous mediastinal tumors were associated with poor survival in children. Further research is needed to improve the prognosis of children with malignant mediastinal GCTs.

Standard Induction Followed by Low Dose Cytarabine for the Treatment of Acute Myeloid Leukemia of Down Syndrome / 임상소아혈액종양

BACKGROUND: Although acute myeloid leukemia occurring in patients with Down syndrome (AML-DS) is generally chemosensitive, these patients are more susceptible to regimen-related toxicities, and the optimal post-remission therapy for AML-DS is unknown. This study aimed to evaluate the outcome of post-remission chemotherapy using low dose cytarabine for AML-DS.METHODS: We reviewed the medical records of 142 patients who were newly diagnosed as de novo AML between 1996 and 2011. Among them, 8 patients (5.6%) had Down syndrome. Seven patients received standard induction therapy composed of cytarabine (or behenoyl cytarabine) and anthracycline. Once complete remission (CR) was achieved, repetitive courses of low dose cytarabine were given.RESULTS: Patients' median age at diagnosis was 1.3 years (range, 0.4-1.9). All but one showed French-American-British (FAB) M7 morphology. Six patients achieved CR (75%) after induction therapy and then received 9 to 20 courses (median, 14) of low dose cytarabine. One patient had 2 episodes of neutropenic fever, whereas the other 5 patients did not suffer from any complication. All six patients are alive event-free with a median follow-up of 118 months (range, 33-208). The estimated 5-year overall survival of all 8 AML-DS patients was 87.5%, while that of non-DS de novo AML patients was 58.6% (P=0.18).CONCLUSION: Low dose cytarabine was safe and effective as a post-remission therapy for AML-DS. Due to the rarity of AML-DS, a multicenter cooperative study is essential to identify the optimal duration of treatment and to further determine the feasibility of low dose cytarabine for these patients.

Optimal Time to Start Peripheral Blood Stem Cell Collection in Children with High-Risk Solid Tumors

In order to clarify the optimal timing for peripheral blood stem cell (PBSC) collection, PBSC collection records of 323 children who were scheduled to undergo autologous stem cell transplantation from two study periods differing in the timing of PBSC collection were analyzed. In the early study period (March 1998 to August 2007, n=198), PBSC collection was initiated when the peripheral WBC count exceeded 1,000/microL during recovery from chemotherapy. Findings in this study period indicated that initiation of PBSC collection at a higher WBC count might result in a greater CD34+ cell yield. Therefore, during the late study period (September 2007 to December 2012, n=125), PBSC collection was initiated when the WBC count exceeded 4,000/microL. Results in the late study period validated our conclusion from the early study period. Collection of a higher number of CD34+ cells was associated with a faster hematologic recovery after transplant in the late study period. Initiation of PBSC collection at WBC count > 4,000/microL was an independent factor for a greater CD34+ cell yield. In conclusion, PBSC collection at a higher WBC count is associated with a greater CD34+ cell yield, and consequently a faster hematologic recovery after transplant.

Standard Induction Followed by Low Dose Cytarabine for the Treatment of Acute Myeloid Leukemia of Down Syndrome / 임상소아혈액종양

BACKGROUND: Although acute myeloid leukemia occurring in patients with Down syndrome (AML-DS) is generally chemosensitive, these patients are more susceptible to regimen-related toxicities, and the optimal post-remission therapy for AML-DS is unknown. This study aimed to evaluate the outcome of post-remission chemotherapy using low dose cytarabine for AML-DS. METHODS: We reviewed the medical records of 142 patients who were newly diagnosed as de novo AML between 1996 and 2011. Among them, 8 patients (5.6%) had Down syndrome. Seven patients received standard induction therapy composed of cytarabine (or behenoyl cytarabine) and anthracycline. Once complete remission (CR) was achieved, repetitive courses of low dose cytarabine were given. RESULTS: Patients' median age at diagnosis was 1.3 years (range, 0.4-1.9). All but one showed French-American-British (FAB) M7 morphology. Six patients achieved CR (75%) after induction therapy and then received 9 to 20 courses (median, 14) of low dose cytarabine. One patient had 2 episodes of neutropenic fever, whereas the other 5 patients did not suffer from any complication. All six patients are alive event-free with a median follow-up of 118 months (range, 33-208). The estimated 5-year overall survival of all 8 AML-DS patients was 87.5%, while that of non-DS de novo AML patients was 58.6% (P=0.18). CONCLUSION: Low dose cytarabine was safe and effective as a post-remission therapy for AML-DS. Due to the rarity of AML-DS, a multicenter cooperative study is essential to identify the optimal duration of treatment and to further determine the feasibility of low dose cytarabine for these patients.

Erratum: Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA / 소아과

This erratum is being published to correct of page 435 and Table 4.

May-Hegglin Anomaly Diagnosed by Genetic Study in a Newborn Infant / 대한주산의학회잡지

May-Hegglin anomaly is an autosomal dominant platelet disorder characterized by giant platelets, thrombocytopenia, and Dohle-like cytoplasmic inclusion bodies in granulocyte. Usually, diagnosis was delayed because they do not have life-threatening bleeding. We experienced a case of May-Hegglin anomaly, which was diagnosed with genetic study at neonate. A 3 days old female has bilateral cephalhematoma at birth after a Caesarean section delivery. Thrombocytopenia with inclusion bodies in granulocyte was observed at peripheral blood cell morphology. Her mother had thrombocytopenia at pregnancy and was diagnosed May-Hegglin anomaly through MYH9 mutation gene study. Accordingly, infant had genetic study and found same gene mutation with mother. Based on the family history, we can diagnose May-Hegglin anomaly in a newborn infant who has cephalhematoma and thrombocytopenia by genetic study.

Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA / 소아과

PURPOSE: Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. Only a few MPS IVA cases have been reported in the Korean literature; there is a paucity of research about clinical or radiologic findings for this disorder. Therefore, we studied clinical findings, radiological features, and genetic data of Korean MPS IVA patients for determining factors that may allow early diagnosis and that may thus improve the patients' quality of life. METHODS: MPS IVA was confirmed via assay for enzymatic activity of leukocytes in 10 patients. The GALNS gene was analyzed. Patients' charts were retrospectively reviewed for obtaining clinical features and evaluated for radiological skeletal surveys, echocardiography, pulmonary function test, and ophthalmologic test results. RESULTS: Nine patients had severe clinical phenotype, and 1 had an intermediate phenotype, on the basis of clinical phenotype criteria. Radiologic findings indicated skeletal abnormalities in all patients, especially in the hips and extremities. Eight patients had an odontoid hypoplasia, and 1 showed mild atlantoaxial subluxation and cord myelopathy. Genetic analysis indicated 10 different GALNS mutations. Two mutations, c.451C>A and c.1000C>T, account for 37.5% (6/16) and 25% (4/16) of all mutations in this samples, respectively. CONCLUSION: An understanding of the clinical and radiological features involved in MPS IVA may allow early diagnosis of MPS IVA. Adequate evaluations and therapy in the early stages may improve the quality of life of patients suffering from skeletal abnormalities and may reduce life-threatening effects of atlantoaxial subluxation.

Clinical Characteristics of Intracranial Germ Cell Tumors in Children / 임상소아혈액종양

BACKGROUND: Intracranial germ cell tumors are higher in the East Asia such as Korea and Japan than any other Western countries. By analyzing common clinical features of intracranial germ cell tumors in children, we will prevent from misdiagnosing and delaying in the establishment of diagnosis. Furthermore, we can choose appropriate therapeutic plans to improve patient's prognosis.METHODS: We retrospectively reviewed the medical records of 68 patients to investigate and analyze clinical characteristics of intracranial germ cell tumors in children.RESULTS: The average age of 68 patients was 14.8 years old, and the male to female ratio in all patients was 3:1. The most common symptom presented by 30 patients was headache regarded as a nonspecific symptom in brain tumors. Sixty four patients were diagnosed by histologic method called biopsy and most of them were come out into germinoma. Thirty five patients were included in low-risk group and 30 patients were in high-risk group. Intracranial germ cell tumors in this study were most commonly located in the pineal gland.CONCLUSION: There are a variety of types in intracranial germ cell tumors, and they have been accurately diagnosed by radiologic, histologic methods and elevated tumor markers. We concluded that it is necessary for early diagnosis to evaluate exhaustively in patients suspected of brain tumors.

Clinical Characteristics of Intracranial Germ Cell Tumors in Children / 임상소아혈액종양

BACKGROUND: Intracranial germ cell tumors are higher in the East Asia such as Korea and Japan than any other Western countries. By analyzing common clinical features of intracranial germ cell tumors in children, we will prevent from misdiagnosing and delaying in the establishment of diagnosis. Furthermore, we can choose appropriate therapeutic plans to improve patient's prognosis. METHODS: We retrospectively reviewed the medical records of 68 patients to investigate and analyze clinical characteristics of intracranial germ cell tumors in children. RESULTS: The average age of 68 patients was 14.8 years old, and the male to female ratio in all patients was 3:1. The most common symptom presented by 30 patients was headache regarded as a nonspecific symptom in brain tumors. Sixty four patients were diagnosed by histologic method called biopsy and most of them were come out into germinoma. Thirty five patients were included in low-risk group and 30 patients were in high-risk group. Intracranial germ cell tumors in this study were most commonly located in the pineal gland. CONCLUSION: There are a variety of types in intracranial germ cell tumors, and they have been accurately diagnosed by radiologic, histologic methods and elevated tumor markers. We concluded that it is necessary for early diagnosis to evaluate exhaustively in patients suspected of brain tumors.