• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.13 no.1
• /
• pp.37-42
• /
• 2013

Gaucher disease is a lysosomal storage disease caused by deficiency of glucocerebrosidase (GBA). This condition is characterized by accumulation of glucocerebrosidase in liver, spleen, lung, skeletal system, and central nervous system. Gaucher disease is the prototype of disease in which efficacy of enzyme replacement therapy has been established. However, because recombinant enzyme is not able to enter the central nervous system, its efficacy is limited to the non-neurological manifestations of Gaucher disease. Importantly, approximately a half of Korean patients with Gaucher disease suffer from neurological manifestations. In addition, Korean Gaucher disease patients exhibit distinct mutation spectrum from those in other populations. Common mutations in Korean patients with Gaucher disease are also associated with neurological phenotype. Therefore, therapeutic strategies tailored to Korean patients were necessary. Interestingly, a chemical chaperone, ambroxol, has been known to increase residual enzymatic activities of the select mutant GBAs encoded by mutations prevalent in Korean patients. One promising aspect of this drug is that it can cross blood-brain barrier, and enhance the enzyme activity in the brain. In vitro study suggested this chemical chaperone as one of new therapeutic agents in Gaucher disease, and a well-designed human trial is required to confirm its efficacy.

• Advances in pediatric surgery
• /
• v.20 no.2
• /
• pp.53-57
• /
• 2014

Purpose: Neonatal neuroblastoma (NBL) is the most common malignant tumor in neonates, but there have been few studies about it. The purpose of this study was to investigate the clinical features of NBL and to compare prenatal and postnatal diagnosed groups. Methods: Nineteen patients who were diagnosed with NBL prenatally or within 28 days after birth from February 1986 to February 2013 in Seoul National University Hospital were enrolled in the study. The patients were categorized according to the International Neuroblastoma Staging System (INSS) and Children's Oncology Group (COG). Retrospective medical-record reviews were performed on these patients. The operative date, complication, pathological stage, and overall survival of the prenatally diagnosed group and the postpartum diagnosed group were compared. Results: Tumor was detected via prenatal ultrasonography in 8 patients (42.1%), and 11 patients (57.9%) were diagnosed within 28 days after birth. Based on INSS, the patients were divided into the stage I (n=8), stage II (n=1), stage III (n=3), stage IV (n=4), and stage IVs (n=3) groups, respectively. Based on COG, on the other hand, the patients were divided into the low-risk (n=8), intermediate-risk (n=8), and high-risk (n=3) groups. The postoperative complication rate was 29%. One patient died from complications from chemotherapy. The other 18 patients' mean follow-up period was 77.7 months. The differences between the postoperative complication rate, proportion of early-stage tumor, and overall survival of the prenatal and postnatal groups were not statistically significant (p=0.446, p=0.607, p=0.414). Conclusion: NBL showed favorable outcomes but relatively higher postoperative complications. There seem to be no significant statistical differences in the postoperative complications, proportion of early-stage tumor, and overall survival between the prenatally diagnosed group and the postpartum diagnosed group.

• Clinical and Experimental Pediatrics
• /
• v.57 no.4
• /
• pp.193-198
• /
• 2014

Purpose: This study aimed to evaluate the autonomic imbalance in syncope by comparing the baseline heart rate variability (HRV) between healthy children and those with vasovagal syncope. Methods: To characterize the autonomic profile in children experiencing vasovagal syncope, we evaluated the HRV of 23 patients aged 7-18 years and 20 healthy children. These children were divided into preadolescent (<12 years) and adolescent groups. The following time-domain indices were calculated: root mean square of the successive differences (RMSSD); standard deviation of all average R-R intervals (SDNN); and frequency domain indices including high frequency (HF), low frequency (LF), normalized high frequency, normalized low frequency, and low frequency to high frequency ratio (LF/HF). Results: HRV values were significantly different between healthy children and those with syncope. Student t test indicated significantly higher SNDD values (60.46 ms vs. 37.42 ms, P =0.003) and RMSSD (57.90 ms vs. 26.92 ms, P=0.000) in the patient group than in the control group. In the patient group, RMSSD (80.41 ms vs. 45.89 ms, P =0.015) and normalized HF (61.18 ms vs. 43.19 ms, P =0.022) were significantly higher in adolescents, whereas normalized LF (38.81 ms vs. 56.76 ms, P =0.022) and LF/HF ratio (0.76 vs. 1.89, P =0.041) were significantly lower in adolescents. In contrast, the control group did not have significant differences in HRV values between adolescents and preadolescents. Conclusion: The results of this study indicated that children with syncope had a decreased sympathetic tone and increased vagal tone compared to healthy children. Additionally, more severe autonomic imbalances possibly occur in adolescents than in preadolescents.

• Journal of The Korean Society of Emergency Medicine
• /
• v.29 no.5
• /
• pp.423-429
• /
• 2018

Objective: Falling is a common cause of head injury in preschool aged children. We investigated the characteristics of mild head injuries caused by falling and the association between body weight and occurrence of traumatic brain injuries (TBI). Methods: This retrospective observational study was conducted on head-injured preschool-aged children that visited the emergency department from January 2012 to December 2015. Characteristics such as age, sex, weight, free fall height, floor type, and presence of TBI, as defined as cerebral hemorrhage or skull fracture, were investigated. We calculated body weight percentiles by calibrating age and weight and categorized them into four quartile ranges. We grouped all included cases into two groups according to the presence of TBI. The characteristics of the two groups were compared by using chi-square test, and the association with TBI was investigated by using binomial logistic regression. Results: A total of 701 children were included, and TBI was observed in 95 children. Children with TBI were younger. The proportion of children with TBI was higher in the third and fourth quartiles of the body weight group as well as according to soft floor and fall from high height (${\geq}1m$). The odds of soft floor being associated with TBI was higher than the odds for hard floor (odds ratio, 2.734; 95% confidence interval [CI], 1.597-4.680). The odds of high height (${\geq}1m$) being associated with TBI was higher than that for low height (odds ratio, 2.306; 95% CI, 1.155-4.601), and the odds ratio for the weight percentile group was 1.228 (95% CI, 1.005-1.499). Conclusion: Prevalence of TBI after falling in preschool-aged children might be associated with high fall-height and body weight quartiles.

• Clinical and Experimental Pediatrics
• /
• v.63 no.11
• /
• pp.438-446
• /
• 2020

Background: Most developmental screening tools in Korea are adopted from foreign tests. To ensure efficient screening of infants and children in Korea, a nationwide screening tool with high reliability and validity is needed. Purpose: This study aimed to independently develop, standardize, and validate the Korean Developmental Screening Test for Infants and Children (K-DST) for screening infants and children for neurodevelopmental disorders in Korea. Methods: The standardization and validation conducted in 2012-2014 of 3,284 subjects (4-71 months of age) resulted in the first edition of the K-DST. The restandardization and revalidation performed in 2015-2016 of 3.06 million attendees of the National Health Screening Program for Infants and Children resulted in the revised K-DST. We analyzed inter-item consistency and test-retest reliability for the reliability analysis. Regarding the validation of K-DST, we examined the construct validity, sensitivity and specificity, receiver operating characteristic curve analysis, and a criterion-related validity analysis. Results: We ultimately selected 8 questions in 6 developmental domains. For most age groups and each domain, internal consistency was 0.73-0.93 and test-retest reliability was 0.77-0.88. The revised K-DST had high discriminatory ability with a sensitivity of 0.833 and specificity of 0.979. The test supported construct validity by distinguishing between normal and neurodevelopmentally delayed groups. The language and cognition domain of the revised K-DST was highly correlated with the K-Bayley Scales of Infant Development-II's Mental Age Quotient (r=0.766, 0.739), while the gross and fine motor domains were highly correlated with Motor Age Quotient (r=0.695, 0.668), respectively. The Verbal Intelligence Quotient of Korean Wechsler Preschool and Primary Scales of Intelligence was highly correlated with the K-DST cognition and language domains (r=0.701, 0.770), as was the performance intelligence quotient with the fine motor domain (r=0.700). Conclusion: The K-DST is reliable and valid, suggesting its good potential as an effective screening tool for infants and children with neurodevelopmental disorders in Korea.

• Journal of the Korean Society of Physical Medicine
• /
• v.8 no.4
• /
• pp.583-592
• /
• 2013

PURPOSE: This study aimed to investigate muscles activation relate to core stability during 5 therapeutic exercise in children with spastic diplegia. METHODS: The subjects of this study were 8 children with typical development and 12 children with spastic diplegia who have been treated in Bobath children's hospital, all of whom agreed to participate in the study. All subjects were measured to see their muscles activation of rectus abdominalis, external oblique abdominalis, elector spinae, gluteus maximus, rectus femoris, and semitendinosus with surface EMG. RESULTS: The results of this study were as follows : 1) There were statistically significant difference in the root mean square(RMS) of all muscles according to 5 therapeutic exercise in children with spastic diplegia. 2) There were statistically significant difference in the RMS of all muscles according to 5 therapeutic exercise in children with typical development. 3) Significant differences of the RMS between diplegic children and normal children were found in elector spinae and rectus femoris only curl-up exercise. CONCLUSION: As the above results, we suggest that 5 therapeutic exercises could be used for a core stability or core strengthening program. Depending on the individual needs of children with cerebral palsy, some of exercises may be more beneficial than others for achieving strength.

• Journal of The Korea Institute of Healthcare Architecture
• /
• v.19 no.1
• /
• pp.23-34
• /
• 2013

Purpose: Many researches have clearly begun to address the relationship between people and their physical environments. These represent that children experience traditional hospital environments as unpleasant and scary. More specifically, children in hospitals face many psychological and emotional challenges: isolation, painful procedures, separation from family members, all in unfamiliar settings. For this reason, some have argued that the children's experiences within hospital environments can lead to poorer health outcomes. This study has been started in order to provide basic informations for the planning of Healing rest space in pediatric ward. Methods: Literature reviewes and field surveys to rest space at pediatric ward in Korea and foreign country have been conducted for the data collection. Results: The result of this study can be summarized into eight environment factor for healing rest space in pediatric ward: family, noise, safe, choice opportunity, light, privacy, social support and distract from disease or death. Implications: In the rest space in pediatric ward, it is necessary to consider healing rest space for promoting healing from disease and normal developing of children.

• Child Health Nursing Research
• /
• v.21 no.2
• /
• pp.168-175
• /
• 2015

Purpose: The purpose of this study was to identify whether individualized distraction intervention using a smart phone affected pre-op anxiety of children. Methods: This was a nonequivalent control group pre-post test quasi-experimental design. The participants were 30 children in the experimental group and 30 in the control group. In experimental group, a smart phone individualized distraction intervention was given to children from the reception area to the operation room. Results: For heart rate, there were no statistically significant differences between the experimental group and control group. In the behavioral anxiety response, there were statistically significant differences between the experimental group and control group (t=-3.11, p=.003). Conclusion: The finding suggest that, for pre-op children, the individualized distraction intervention using a smart phone had some significance as a nursing intervention having a positive impact. Such interventions can help pediatric nurses to relieve pre-op anxiety and improve health of children in their care.

• Advances in pediatric surgery
• /
• v.10 no.2
• /
• pp.145-149
• /
• 2004

A 12-year-old boy with severe periumbilical pain visited the emergency room. Physical examination, abdominal ultrasonography, colonoscopy and CT, identified a lesion of sigmoid colon. Endoscopic biopsy showed a signet ring cell carcinoma of the sigmoid colon. On explorative laparotomy, cancer invasions of the adjacent structures and metastases on peritoneal wall were noticed. We performed palliative loop-ileostomy. He underwent chemotherapy and radiotherapy for 3 months. The second case was a 16-year-old boy with abdominal pain and hematochezia, transferred to our hospital with the diagnosis of acute appendicitis with periappendiceal abscess. Although he underwent appendectomy, the abdominal pain persisted. Digital rectal examination revealed a lumen-obstructing fungating mass in the rectum. Endoscopic biopsy revealed a adenocarcinoma. Cancer invasion of the adjacent structures and metastases involving the mesentery of the small intestine were found at laparotomy. A palliative procedure, a Hartmann's operation and end-colostomy at the sigmoid colon were performed. The patient died 8 month later due to pneumonia and sepsis. Chemotherapy was not applied.

• Advances in pediatric surgery
• /
• v.14 no.2
• /
• pp.173-177
• /
• 2008

Sialoblastoma is a rare tumor of salivary gland origin, developing in the fetal or neonatal period. Most tumors arise in parotid gland, and rarely in submandibular gland. Because of its rare incidence, diagnosis of the sialoblastoma in head and neck tumors of children is not easy. The case of a congenital submandibular gland sialoblastoma is presented. A neonate was transferred right after birth due to a submandibular mass. CT scan showed a lobulating mass located posterior to the left submandibular gland, suggesting neurogenic tumor or myofibroma. The tumor was excised easily after division of a duct-like structure connecting with the submandibular gland. The microscopic findings showed the basaloid cells and ductules forming cellular nests, separated by thin fibrous tissue. Immunohistochemical staining was positive for cytokeratin, vimentin and Ki-67, which was consistent with sialoblastoma.