Yong Hoon Jun

Topiramate Monotherapy in Infantile Spasm

Infantile spasm is an age-related refractory epilepsy. Topiramate is a new anticonvulsant with multiple mechanisms of action, and it may be effective for treating pediatric epilepsies. To evaluate the efficacy and tolerability of first-line topiramate treatment for infantile spasm, 20 patients received topiramate monotherapy during this study. They were treated with an initial dose of 1 mg/kg/day, with a progressive titration of 1 mg/kg a week until their spasms were controlled and a maximum dose of 12 mg/kg/day was achieved. The evaluation of the treatment efficacy was based on the spasm frequency data that was obtained by the scalp and video-EEG, and by the parental count of spasm. Thirty percent of the subjects became spasm-free during the study. Six of 20 subjects (30%) had cessation of spasm and disappearance of hypsarrhythmia as seen via the video EEG; four (50%) of eight idiopathic patients had a response, whereas two (17%) of 12 patients with symptomatic infantile spasm responded. Seventy of the patients, including the spasm-free patients, had a reduction in their seizure frequency of more than 50%, and 10% of the patients had a reduction in their seizure frequency of less than 50%. The clusters of spasm frequency decreased from 10.6 ± 8.5 to 3.5 ± 1.4 clusters/day. Topiramate is effective and tolerated in those patients suffering from infantile spasm. Our results suggest that this drug should be considered as a new first-line drug for treating infantile spasm.

Congenital Acute Myeloid Leukemia with t(8;16) and t(17;19) Double Translocation: Case Presentation and Literature Review

Congenital leukemia is uncommon and excluding transient myeloproliferation associated with Down syndrome, makes up approximately 1% of childhood leukemias. A newborn boy was born with multiple subcutaneous nodules and large purpuric papules. Skin biopsy revealed proliferation of atypical hematologic cells in the dermis. Bone marrow morphology was consistent with acute myeloid leukemia (M5) and cytogenetic studies revealed t(8;16) and t(17;19) double translocation. Although prognosis of congenital leukemia is known to be dismal, recent reports showed spontaneous remissions. With the fear of chemotherapy-related toxicity, to treat or not to treat may be a dilemma both to parents and pediatricians. We report our experience and review the literature.

Significant adverse reactions to long-acting gonadotropin-releasing hormone agonists for the treatment of central precocious puberty and early onset puberty.

Purpose Long-acting gonadotropin-releasing hormone agonists (GnRHa) are commonly used to treat central precocious puberty (CPP) in Korea. Although rare, there have been reports on the characteristic of adverse reactions of GnRHa in CPP among the Korean population. This study was intended to report on our clinical experience regarding significant adverse reactions to long-acting GnRHa in CPP and early onset puberty and to evaluate the prevalence rate of serious side effects. Methods This retrospective study included children with CPP and early onset puberty, who were administered monthly with long-acting GnRHa (leuprolide acetate, triptorelin acetate) at the outpatient clinic of Department of Pediatrics, at Inha University Hospital, between January 2011 and December 2013. We analyzed the clinical characteristics of patients who experienced significant adverse reactions and evaluated the prevalence rate. Results Six serious side effects (0.9%) were observed among total of 621 CPP and early onset puberty children with GnRHa therapy. The number of sterile abscess formation was four in three patients (4 events of 621). Anaphylaxis occurred in only one patient, and unilateral slipped capital femoral epiphysis (SCFE) in another one patient. Anaphylaxis occurred after the 6th administration of the monthly depot triptorelin acetate. Unilateral SCFE developed in GnRHa therapy. Conclusion Sterile abscess formation occurred in 0.6% of CPP and early onset puberty patients from the administration of a monthly depot GnRHa therapy. The occurrences of anaphylaxis and SCFE are extremely rare, but can have serious implications on patients. Clinicians should be aware of these potential adverse effects related to GnRHa therapy in CPP.

Is It Possible to Predict the Iron Status from an Infant's Diet History?

Purpose Iron deficiency remains a very common nutritional problem despite the improvement in nutrition and increased understanding of methods for its prevention. Thus, we try to create a new method for screening iron nutrition through infant nutrition history. Methods Among the children who visited Inha University Hospital from March 2006 to July 2012, 181 children with iron deficiency anemia (IDA) and 52 children without IDA ranging from 6 to 36 months of age were reviewed in this study. We used the age when they began to wean food, the type of sort weaning foods, the time required for successful weaning, iron content in weaning foods, and the duration of breastfeeding for scoring infant nutrition history based on a questionnaire. Results The mean score of the IDA group was 7.8±2.6 points, which was significantly higher than that of the control group (5.6±2.1) (p=0.000). If we set up the cutoff value at 6 points, this screening has 86.8% sensitivity and 36% specificity. In addition, as the IDA score increased, there was a falling trend of hemoglobin. Conclusion The IDA score does not have high specificity or high sensitivity. However, this study conveys that those patients who record a high score have low hemoglobin. Therefore, we suggest this score system for screening more IDA patients via nonpainful techniques.

Serum glycated albumin as a new glycemic marker in pediatric diabetes

Purpose Serum glycated albumin (GA) has been recently used as another glycemic marker that reflects shorter term glycemic control than glycated hemoglobin (HbA1c). Insulin secretory function and glycemic fluctuation might be correlated with the ratio of GA to HbA1c (GA/HbA1c) in diabetic adult patients. This study investigated the association of GA and GA/HbA1c ratio with the levels of fasting C-peptide, fasting plasma glucose in type 1 and type 2 pediatric diabetes. Methods Total 50 cases from 42 patients were included. The subjects were classified into type 1 diabetes mellitus (T1DM) (n=30) and type 2 diabetes mellitus (T2DM) (n=20) group. The associations among HbA1c, GA, and GA/HbA1c ratio were examined. The relationship between the three glycemic indices and fasting glucose, fasting C-peptide were analyzed. Results Mean values of GA, the GA/HbA1c ratio were significantly higher in T1DM than T2DM. GA (r=0.532, P=0.001), HbA1c (r=0.519, P=0.002) and the GA/HbA1c ratio (r=0.409, P=0.016) were correlated with the fasting plasma glucose. Fasting C-peptide level arranged 4.22±3.22 ng/mL in T2DM, which was significantly above the values in T1DM (0.26±0.49 ng/mL). There were no significant correlation between HbA1c and fasting C-peptide level. However, GA and the GA/HbA1c ratio exhibited inverse correlations with fasting C-peptide level (r=-0.214, P=0.002; r=-0.516, P<0.001). Conclusion GA seems to more accurately reflects fasting plasma glucose level than HbA1c. GA, GA/HbA1c ratio appear to reflect insulin secretory function.

Growth patterns and their implications for preterm infants in a culture of rapid modernization.

This prospective longitudinal study explored the growth patterns of preterm infants and the implications of rearing them in an advancing culture. The study measured the weight, length, and head circumference of 343 Korean preterm infants over 12 months corrected age. Data were analyzed using a generalized estimation equation for growth patterns of preterm infants by the degree of prematurity (mild, moderate, or severe). Results showed that the early ‘catch-up phenomenon’, accelerated growth rate, occurred around 11 months corrected age, although the mild preterm group weighed less, was shorter, and had a smaller head circumference than the moderate and severe preterm groups. This may reflect the Asian culture’s preference for big babies and draws special attention to the influence of cultural values and childrearing practices in the growth of preterm infants. Pediatric nurses should be alert to accelerated growth in preterm infants in societies in cultural transition.

Neurally adjusted ventilatory assist for infants under prolonged ventilation

Severe bronchopulmonary dysplasia often leads to prolonged mechanical ventilation lasting several months. Cyanotic episodes frequently occur in these patients, necessitating long‐term sedation and/or intermittent muscle paralysis. Neurally adjusted ventilatory assist (NAVA) might provide precisely the amount of support that these patients need without sedation.

Mosaic Turner syndrome associated with schizophrenia

Turner syndrome is a sex-chromosome disorder; occurring in 1 in 2,500 female births. There are sporadic few case reports of concomitant Turner syndrome with schizophrenia worldwide. Most Turner females had a 45,X monosomy, whereas the majority of comorbidity between Turner syndrome and schizophrenia had a mosaic karyotype (45,X/46,XX). We present a case of a 21-year-old woman with Turner syndrome, mosaic karyotype (45,X/46,XX), showing mental retardation, hypothyroidism, and schizophrenia. HOPA gene within Xq13 is related to mental retardation, hypothyroidism, and schizophrenia. Our case may be a potential clue which supports the hypothesis for involvement of genes on X chromosome in development of schizophrenia. Further studies including comorbid cases reports are need in order to discern the cause of schizophrenia in patients having Turner syndrome.

Patent Ductus Arteriosus Closure in Prematurities Weighing Less than 1 Kg by Subaxillary Mini-thoracotomy

The surgical closure of patent ductus arteriosus (PDA) is provided more frequently in extremely low birth weight babies who are usually deemed unsuitable for pharmacological closure. We have adopted subaxillary mini-thoracotomy in order to lessen surgical trauma in these babies; and its clinical results were analyzed. From April 2004 to August 2008, out of 50 babies at the neonatal intensive care unit who underwent the surgical closure of PDA, 22 premature babies weighing less than 1 kg at operation were included in the study. Eleven babies were males and mean gestational age was 27 weeks ranging from 23+3 to 30+2 weeks. Mean body weight at operation was 816 g ranging from 490 to 989 g and average age at operation was 17.9±11.9 days. Of them, 17 babies (72%) were ventilator dependent preoperatively, as compared with 13 out of 28 (46%) babies that weighed more than 1 kg (P<0.05). Four babies did not survive to discharge. Among 28 babies who were heavier than 1 kg, there were only one death. However, the mortality difference was not statistically significant (P=0.11). All mortalities were caused by inherent problems of prematurity and co-morbidities. Out of 17 babies who had been ventilator dependent preoperatively, 13 weaned off successfully at 17.0±23.9 days after the operation. The baby patients heavier than 1 kg weaned at 6.0±5.3 days (P=0.27). Surgical outcome of simple and less invasive subaxillary mini-thoracotomy was satisfactory; the surgery is highly recommended for ductal closure in extremely low weight premature babies.

The Diagnostic Value of Pelvic Ultrasound in Girls with Central Precocious Puberty.

The gonadotropin-releasing hormone (GnRH) stimulation test is the gold standard for differentiating central precocious puberty (CPP) from exaggerated thelarche (ET). Because of this tests limitations, previous studies have clarified the clinical and laboratory factors that predict CPP. The present study investigated the early diagnostic significance of pelvic ultrasound in girls with CPP. The GnRH stimulation test and pelvic ultrasound were performed between March 2007 and February 2015 in 192 girls (aged <8 years) with signs of early puberty and advanced bone age. Ninety-three of 192 patients (48.4%) were diagnosed as having CPP and the others (51.6%) as having ET. The CPP group had higher uterine volumes (4.31±2.79 mL) than did the ET group (3.05±1.97 mL, p=0.03). No significant differences were found in other ultrasonographic parameters. By use of receiver operating characteristic curve analysis, the most predictive parameter for CPP was a uterine volume of least 3.30 mL, with an area under the curve of 0.659 (95% confidence interval: 0.576-0.736). The CPP group had significantly higher uterine volumes than did the ET group, but there were no reliable cutoff values in pelvic ultrasound for differentiating between CPP and ET. Pelvic ultrasound should be combined with clinical and laboratory tests to maximize its diagnostic value for CPP.