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1.  Formula fed twin infants with recurrent hypocalcemic seizures with vitamin D deficient rickets and hyperphosphatemia 
Vitamin D deficient rickets is generally known to occur in breast fed infants. And excessive phosphate ingestion is a main cause of late onset hypocalcemia in formula fed infants. Here we introduce 45-day-old formula fed hypocalcemic twins with recurrent seizure attacks. They were diagnosed as having both of vitamin D deficient rickets and hyperphosphatemia. Radiologic findings indicated mild rickets and the twins were treated with calcium and alfacalcidol. After 3-5 months of oral supplementation, medication was discontinued in both twins. They showed normal growth and calcium, phosphorus, and vitamin D levels during the 6-month follow-up period. Twins can be at risk for hypocalcemia because of their high risk of vitamin D deficiency, low birth weight, and premature birth. Therefore twin pregnant women need ingestion of sufficient vitamin D and calcium.
PMCID: PMC4504989  PMID: 26191515
Twins; Vitamin D deficiency; Hypocalcemia; Seizures; Rickets
2.  Tandem High-Dose Chemotherapy and Autologous Stem Cell Transplantation in Young Children with Atypical Teratoid/Rhabdoid Tumor of the Central Nervous System 
Journal of Korean Medical Science  2012;27(2):135-140.
The feasibility and effectiveness of tandem high-dose chemotherapy and autologous stem cell transplantation (HDCT/autoSCT) were evaluated in children younger than 3 yr of age with atypical teratoid/rhabdoid tumors (ATRT). Tandem HDCT/autoSCT was administered following six cycles of induction chemotherapy. Radiotherapy (RT) was administered if the tumor relapsed or progressed, otherwise, it was administered after 3 yr of age. Tumors relapsed or progressed during induction chemotherapy in 5 of 9 patients enrolled; 3 of these 5 received tandem HDCT/autoSCT as a salvage treatment. One patient died from sepsis during induction chemotherapy. The remaining 3 patients proceeded to tandem HDCT/autoSCT; however, 2 of these patients showed tumor relapse/progression after tandem HDCT/autoSCT. All 7 relapses/progressions occurred at primary sites even in patients with leptomeningeal seeding. Toxicities during tandem HDCT/autoSCT were manageable. A total of 5 patients were alive with a median follow-up of 20 (range 16-70) months from diagnosis. Four of 5 patients who received RT after relapse/progression are alive. The probability of overall survival at 3 yr from diagnosis was 53.3% ± 17.3%. Our tandem HDCT/autoSCT is feasible; however, early administration of RT prior to tandem HDCT/autoSCT should be considered to improve the outcome after tandem HDCT/autoSCT.
PMCID: PMC3271285  PMID: 22323859
Rhabdoid Tumor; Central Nervous System; Drug Therapy; Stem Cell Transplantation; Radiotherapy; Child
3.  Clinical characteristics of hemophagocytic lymphohistiocytosis following Kawasaki disease: differentiation from recurrent Kawasaki disease 
Blood research  2013;48(4):254-257.
Our aim was to investigate the clinical pattern of hemophagocytic lymphohistiocytosis following Kawasaki disease (HLH-KD), to enable differentiation of HLH from recurrent or refractory KD and facilitate early diagnosis.
We performed a nationwide retrospective survey and reviewed the clinical characteristics of patients with HLH-KD, including the interval between KD and HLH, clinical and laboratory findings, treatment responses, and outcomes, and compared them with historical data for both diseases.
Twelve patients with HLH-KD, including 5 previously reported cases, were recruited. The median age was 6.5 years (range, 9 months-14.7 years). Eight patients were male and 4 were female. The median interval between the first episode of KD and the second visit with recurrent fever was 12 days (3-22 days). Of the 12 children, 2 were initially treated with intravenous IgG (IVIG) for recurrent KD when they presented at the hospital with recurrent fever. Eventually, 10 children received chemotherapy under an HLH protocol and 2 received supportive treatment. Two patients died of combined infections during chemotherapy, 1 was lost to follow up, and 9 remain alive. The overall survival rate at 4 years was 81.1% with a median follow up of 45.1 months.
A diagnosis of HLH-KD should be considered when symptoms similar to recurrent KD develop within 1 month of the first episode of KD. Our findings will help physicians differentiate between HLH and the recurrent form of KD.
PMCID: PMC3894383  PMID: 24466549
Hemophagocytic lymphohistiocytosis; Kawasaki disease; Recurrent
4.  An Infant with Prenatally Diagnosed Congenital Anaplastic Astrocytoma Who Remains Disease-Free after Proton Therapy 
Journal of Korean Medical Science  2013;28(9):1394-1398.
The authors present a rare of prenatally diagnosed congenital anaplastic astrocytoma. A 9-month-old boy had three recurrences despite two surgical resections and various chemotherapeutic regimens. He underwent the 3rd gross tumor removal at 11 months of age, followed by proton therapy, and now he remains disease-free for 3 yr without a significant neurocognitive dysfunction. This is the 1st case of a pediatric tumor treated by proton therapy in Korea, and proton therapy may be a treatment of choice for a congenital anaplastic astrocytoma in infants and young children, considering limitation of radiation therapy.
PMCID: PMC3763118  PMID: 24015049
Congenital Anaplastic Astrocytoma; Proton Therapy; Recurrence
5.  Two Cases of Partial Trisomy 4p and Partial Trisomy 14q 
Annals of Laboratory Medicine  2012;33(1):69-74.
We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from a balanced translocation carrier mother. Array analyses indicated that their chromosomal breakpoints were similar, but there was no relationship between the 2 families. Both patients showed prominent growth retardation and psychomotor developmental delay. Other phenotypic manifestations were generally mild and variable; for example, patient 1 had a short palpebral fissure and low-set ears whereas patient 2 had a round face, asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.
PMCID: PMC3535200  PMID: 23301226
Trisomy 4p; Ttrisomy 14q; Translocation (4;14)
6.  Novel influenza A (H1N1) 2009 infection in the pediatric patients with hematologic and oncologic diseases in the Yeungnam region 
Korean Journal of Pediatrics  2011;54(3):117-122.
Natural history and consequences of the novel 2009 influenza A H1N1 (2009 H1N1) infection in immunocompromised pediatric patients are not yet fully understood. In this study, we investigated the clinical features and outcomes of the 2009 H1N1 infection in pediatric patients with hematological and oncological diseases.
We retrospectively reviewed the medical records of 528 patients who had hematological and oncological diseases and who were treated at 7 referral centers located in the Yeungnam region. Among the 528 patients, 27 with definite diagnosis of 2009 H1N1 infection were the subjects of this study. All patients were divided into the following 3 groups: patients who were receiving chemotherapy (group 1), patients who were immunosuppressed due to a non-malignant hematological disease (group 2), and patients who were off chemotherapy and had undergone their last chemotherapy course within 2 years from the influenza A pandemic (group 3).
All 28 episodes of 2009 H1N1 infection were treated with the antiviral agent oseltamivir (Tamiflu®), and 20 episodes were treated after hospitalization. Group 1 patients had higher frequencies of lower respiratory tract infection and longer durations of fever and hospitalization as compared to those in group 2. Ultimately, all episodes resolved completely with no complications.
These results suggest that early antiviral therapy did not influence the morbidity or mortality of pediatric patients with hematological and oncological diseases in the Yeungnam region of Korea after the 2009 H1N1 infection. However, no definite conclusions can be drawn because of the small sample size.
PMCID: PMC3120997  PMID: 21738541
Influenza A Virus; H1N1 Subtype; Immunocompromised Patients; Hematologic Diseases; Oseltamivir; Child
7.  Cardiac Functional Evaluation Using Vector Velocity Imaging After Chemotherapy Including Anthracyclines in Children With Cancer 
Korean Circulation Journal  2009;39(9):352-358.
Background and Objectives
Anthracyclines are effective drugs that are widely used in pediatric cancer treatment. Previous studies have demonstrated that exposure to low-dose anthracyclines (<300 mg/m2) induces a progressive decrease in cardiac function during long-term follow-up. The goal of this study was to assess left ventricular function using vector velocity imaging (VVI) in children undergoing low-dose anthracycline therapy.
Subjects and Methods
We examined 14 asymptomatic patients who had been treated with anthracyclines and had normal fractional shortening (FS) and ejection fraction (EF). In all of the patients, standard two-dimensional (2D) pulsed and tissue Doppler echocardiographic measurements were taken from an apical 4-chamber view. The peak myocardial velocity, peak strain rate (SR), peak strain, and displacement were obtained from VVI. Data were compared with 14 age-matched healthy controls.
From the regional wall motion analysis using VVI in the left ventricle, the peak myocardial velocity and displacement of the lateral wall were increased significantly more than the septum, and there were no significant differences between the patients and the controls. Although systolic strain, and the systolic and diastolic SRs showed no significant differences between the septum and lateral wall in the controls, those of septum, in the patients, were decreased significantly more than those of lateral wall (p<0.05). In comparison with the controls, these changes in septal strain and SRs of patients were significant (p<0.05).
Anthracycline therapy, even low-dose, can induce changes in regional wall function before global dysfunction. Also, the strain and SR obtained from VVI may be useful for early detection of these changes.
PMCID: PMC2771831  PMID: 19949618
Anthracyclines; Strain
8.  The Effect of Parental Imprinting on the INS-IGF2 Locus of Korean Type I Diabetic Patients 
Insulin-dependent diabetes mellitus (IDDM) is caused by the autoimmune destruction of pancreatic β-cells. Susceptibility to IDDM appears to depend on more than one genetic locus. Evidence of a genetic linkage for IDDM2 was found in male meioses from French and North American populations. It is linked to maternal imprinting (i.e. monoalleleic expression of the insulin gene) that is considered the most likely cause of these gender-related differences. IGF2 is expressed only in the paternal allele and, therefore, is considered a candidate gene for IDDM2 transmission because of its important autocrine/paracrine effects on the thymus, lymphocytes and pancreas. Nevertheless, it remains controversial whether the parental origin of IDDM2 influences IDDM susceptibility.
Using PCR and semi-quantitative RT-PCR, we analyzed the INS/PstI+1127 and IGF2/ApaI polymorphisms and RNA expression level between PstI (+/−) and PstI (+/+) to determine genotype and allele-specific expression of the INS and IGF2 genes.
INS/PstI (+/+) and IGF2/ApaI (+/−) were observed in 36 (97.3%) of 37 IDDM patients and in 29 (72.5%) of 40 IDDM patients, respectively. The presence of both IGF2 alleles in RNA was observed in 21 (91.6%) of 24 IDDM patients. Our results show a 3-fold increase in RNA expression from PstI (+/−) allele over PstI (+/+) allele.
Our conclusion does not entirely exclude IGF2 as the gene involved in IDDM2, even though the parental effect of IDDM2 transmission is not related to IGF2 maternal imprinting. The INS genotype appeared mostly in the PstI (+/+) homozygote and, therefore, we could not explain the INS imprinting pattern in Korean type 1 diabetic patients. Genetic differences between populations may account for the discrepancy between Korean type I diabetic patients and American or French type I diabetic patients.
PMCID: PMC4578055  PMID: 11855150
Genomic imprinting; Diabetes Mellitus; INS; IGF2; Korea

Results 1-8 (8)