• The Journal of Korea Assosiation for Disability and Oral Health
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• v.9 no.2
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• pp.122-126
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• 2013

Cerebral palsy is one of the primary handicapping conditions of childhood. The prevalence of malocclusions in patients with cerebral palsy is approximately twice than in general population. Even though these high rates of malocclusions, most clinicians may feel uncomfortable about treating such problems to reduce inclination of anterior teeth because to reduce of protrusion makes to decrease risk of trauma. This is the case report about mitigation of maxillary anterior teeth protrusion in patient with cerebral palsy. A 14 year old boy who had cerebral palsy visited our dental hospital. He had severe protrusive maxillary anterior teeth and narrow arch form. He was experienced at using Castillo morales appliance in early childhood. He had mild mental retardation and was able to learn simple skills. He and his parents had willing to improve his dental problems. A gentle impression taking on maxilla was done. Removable appliance was made including median screw and labial bow. We provide a period of adaption for 3 weeks. After of anterior teeth through activation of labial bow was done once a month by dentist. The treatment carried out for 10 months and we could observe reduced labial inclination of maxillary right central incisor and more wide arch form. Hawley type retainer was set at maxilla for retention. In conclusion, accompanying careful case selection and treatment, patient with cerebral palsy can be treated and should not be ignored their orthodontic needs.

• Journal of the Korean Dietetic Association
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• v.2 no.2
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• pp.168-180
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• 1996

This study was accomplished to investigate the prevalence of obesity among the 229 elementary school children(boys; 115 persons, girls; 114 persons) during 4 years by retrospective study. The results were as follows; 1. The mean height and weight of 229 subjects were 143.2cm(boys;143.4cm, girls; 142.7cm), 38.8kg(boys;40.4kg, girls;36.9kg), respectively. And other anthropometric body index such as the mean BMI, Rohrer Index, WLI and Obesity Index of subjects were 18.8(boys;19.5, girls; 18.0), 1.31(boys;1.36, girls; 1.26), 115.5(boys;121.4, girls; 108.9) and 110.6(boys;114.5, girls; 106.7), respectively. 2. The mean percentile values of height and weight of subjects were higher than the '85 Korean Children's Growth Standard, respectively. In the case of boys, the 75th percentile value of weights was larger than that's 97th's. And in the case of girls, the 75th percentile value of weights was equalled to the that's 90th's. 3. When the subjects were classified into 4 groups such as obese, overweight, normal, and lean groups according to Obesity Index, their percentages were 28.8%(boys; 38.3%, girls; 19.3%), ll.8%(boys; 9.6%, girls; 14.0%), 50.7%(boys; 47.0%, girls; 54.4%) and 8.7%(boys; 5.2%, girls; 12.3%), respectively. And only I person(3.3%) is classified into normal group and 2 persons(6.7%) are classified into overweight group when they become 5 grade among 30 persons(13.1%) who were classified into obese group when they were I grade. 4. Changes in percentage of subjects differentiated by 3 indices during 4 years(from I grade to 5 grade) were as follows; In the case of BMI were 5.2%, 5.2%, 11.8%, 21.0%, 27.5%. In the case of Roher index were 13.1%, 11.8%, 14.4%, 14.8%, 17.8%. And in the case of WLI were 15.7%, 21.6%, 29.5%, 32.2%, 36.7%. 5. There was no significant difference among 4 groups on the skip rate of breakfast(obese;48.5%, overweight;55. mean meal time of subjects took about 10 minutes which was short, and the eating rate of obese group was significantly shorter than that of other groups(p<0.05). There was a tendency that the rate of the obese or overweight group eating together in breakfast and dinner was lower than that of normal or lean group. The mean T.V. watching time and the rate of eating out of subjects were 1-2 hours/day and 1 or 2 times/week. In conclusion, the subjects have been grown remarkably compared to the '85 Korean Children's Growth Standard, especially boy's weight. In order to the elementary school children to be grew as healthful citizen they should recognize the importance of meals of everyday, the balanced meals, and desirable eating habits. In addition to these, we should educate the ways of meal-life to them. We also are in need to develope the methods of education for the students themselves and their parents so that could prevent the increase rate of obesity.

• Journal of Genetic Medicine
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• v.16 no.2
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• pp.67-70
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• 2019

Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies that has extremely heterogeneous clinical features and genetic background. The caveolin-3 gene (CAV3) is one of the causative genes. LGMD appears as a clinical continuum, from isolated skeletal muscle involvement to long QT syndrome. Here we report two patients without apparent muscle weakness in a family with CAV3 mutation. A 7-month-old Korean boy visited our muscle clinic because of an incidental finding of elevated serum creatine kinase (CK) concentration (680 IU/L, reference range, 20-270 IU/L) without clinical symptoms. The patient was born after an uneventful pregnancy and showed normal developmental milestones. He developed pseudohypertrophy of his calf muscle during the follow-up. We obtained a muscle biopsy at age 14 months, which showed size variations and degenerating/regenerating myofibers with endomysial fibrosis and immunohistochemical evidence of normal dystrophin. Under the impression of LGMD, we performed target panel sequencing and identified a heterozygous in-frame mutation of CAV3, c.307_312delGTGGTG (p.Val103_Val104del). Immunohistochemical staining of muscle indicated complete loss of caveolin-3 compared with normal control muscle, which supported the variant's pathogenicity. We performed segregation analysis and found that the patient's mother had the same variant with elevated serum CK level (972 IU/L). We report on autosomal dominant familial caveolinopathy caused by a pathogenic variant in CAV3, which was asymptomatic until the fourth decade. This case highlights the utility of next generation sequencing in the diagnosis of muscular dystrophies and the additive role of muscle biopsy to confirm the variants.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.13 no.2
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• pp.108-113
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• 2017

Moyamoya disease is a disorder in which certain arteries in the brain are constricted. Blood flow can be blocked by the constriction and blood clots. The patients frequently experience transient ischemic attacks (TIA), cerebral hemorrhage, or may not experience any symptoms at all. It is reported that they have a higher risk of recurrent stroke and a distinct underlying pathophysiology. A 3-year-8-month old boy with moyamoya disease experienced cerebral infarctions five times, and he underwent a cerebrovascular anastomosis surgery four years ago. He showed swallow disturbance, general delayed development, hemiplegia, and strabismus. Also he had hypocalcified teeth with or without multiple caries lesions in all dentitions. Dental treatment under general anesthesia using sevoflurane was performed due to his lack of cooperation. Moyamoya disease is associated with various medical conditions requiring a thoughtful deliberation and a careful examination before and during dental treatment. Pain and anxiety control during dental treatment is important because hyperventilation induced by crying has been seen to trigger TIA. Both isoflurane and sevoflurane are commonly used in patients with MMD, but dynamic autoregulation is better preserved during sevoflurane than isoflurane anesthesia. So sevoflurance general anesthesia may be recommendable to manage dental patients having multiple caries with moyamoya disease.

• Journal of the korean academy of Pediatric Dentistry
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• v.45 no.1
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• pp.115-122
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• 2018

Noonan syndrome is characterized by distinctive facial features, short stature, and congenital heart disease. It is a congenital genetic disorder with a prevalence of between 1/1,000 and 1/2,500 in both genders. An 11-year-old boy with Noonan syndrome visited the hospital with an ectopically positioned tooth. A pulmonary stenosis was diagnosed and his growth and development were delayed. In many cases of this diseases there is obvious hemostasis, which he was not experiencing. His facial appearance showed characteristic features of Noonan syndrome. The patient showed a dental class II relationship, labioversion of the upper anterior teeth, and a shallow overbite. Radiographic examination revealed that the upper right canine was ectopically positioned, which led to root resorption of the upper right lateral incisor. A lateral cephalometric radiograph revealed a craniofacial pattern that was within normal limits. Surgical opening and button attachment on the impacted upper right canine were performed and traction was applied on the impacted tooth using a removable appliance. This patient was mildly affected by Noonan syndrome and showed some dental problems. However, few studies have reported the oral characteristics of Noonan syndrome despite its high incidence. Thus, this case report describes the oral features and management of Noonan syndrome.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.2
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• pp.69-76
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• 2017

Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene on chromosome 7q21.3, and a type of urea cycle disorder that causes hyperammonemia. Although neonatal intrahepatic cholestasis and adult-onset type II citrullinemia, a type of citrin deficiency, have been described well in many articles for several decades, failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), the other type of citrin deficiency, has been only identified recently. There was previously no case report about FTTDCD in Korea. Patients with FTTDCD could present with loss of appetite, fatigue, failure to thrive, hypoglycemia, hypercitrullinemia, dyslipidemia, and an increased lactate/pyruvate ratio. Routine evaluation may not reveal the cause of hypoglycemia caused by citrin deficiency. We recently had a case that presented with recurrent hypoglycemia in a 30-month-old boy. Chemistry profiling, urine organic acid analysis, plasma acylcarnitine analysis, and hormone studies indicated values within the normal range or non-specific findings. Mutation analysis to identify the cause of hypoglycemia identified the subject as a compound heterozygote carrying each of the c.852_855del ($p.Met285Profs^*2$), and c.1177+1G>A mutant alleles. We report here on this unusual case of citrin deficiency presenting with FTTDCD for the first time in Korea.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.2
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• pp.55-62
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• 2017

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by beta-glucosidase deficiency. An 18 month-old male with hepatosplenomegaly, anemia, thrombocytopenia, and growth retardation referred to our hospital. The patient showed neurological symptoms, such as supranuclear gaze palsy and developmental delay. Bone marrow biopsy performed to rule out malignancy and the results revealed no malignant cell; however, abnormal histiocytes suggesting storage disease was noted. Based on hepatosplenomegaly, bicytopenia and unexplained neurologic manifestations, enzyme activity and genetic analysis were conducted emergently with a strong suspicion of GD. Beta-glucosidase activity in leukocyte was decreased. GBA sequencing to confirm the diagnosis revealed compound heterozygous pathogenic variants (i.e., c.754T>A, c.887G>A), both previously reported as the cause of neuronopathic GD. Under the diagnosis of type 3 GD, the patient immediately received enzyme replacement therapy (ERT). After 17 months of ERT, the size of spleen decreased, and hemoglobin and platelet count returned to normal. In addition, the activity of chitotriosidase and angiotensin converting enzyme decreased. However, myoclonic movement and generalized seizure occurred at the age of 19 months and antiepileptic drug was started. Other neurological deterioration including supranuclear gaze palsy and developmental delay also persisted. A new therapy to overcome neurologic problems should be developed for patients with type 3 GD.

• Journal of the Korea Society of Computer and Information
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• v.20 no.3
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• pp.145-156
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• 2015

The aim of this study is to identify whether the domestic violence experience of children has an impact on their game addition and to verify the direct effects and moderating effects of social support. The survey was conducted to the children who were 5th and 6th graders in Gwangju and Jeonnam. The responses from 328 subjects of domestic violence experience from were analyzed. The analytic results are as the following. When verifying the impact of a domestic violence experience of children on their game addiction, domestict violence was found as the key variable that has a negative impact on children's game addiction. The results indicated that children with higher levels of domestict violence more likely to have higher levels of game addiction. Furthermore, boy's addiction degree to game was higher than girls' and lower education levels of mother, higher grades were found to be associated with higher game addiction. The impact of children's social support on their game addiction was analyzed. The analytic results suggest that social support has a impact on their game addiction. In other words, higher social support means lower game addiction. The moderating effect of social support was analyzed. Social support check the moderating effect of domestic violence of children on their game addiction. The Implications of these findings were discussed.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.2
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• pp.70-78
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• 2016

21-hydroxylase deficiency (21-OHD), most common form of congenial adrenal hyperplasia, is categorized into classical forms, including the salt-wasting (SW) and the simple virilizing (SV) types, and nonclassical (NC) forms based on the severity of the disease. Newborn screening for 21-OHD has been performed in Korea since 2006. $17{\alpha}$-hydroxyprogesterone (17-OHP) is a marker for 21-OHD and is measured using a radioimmunoassay or a fluoroimmunoassay. Premature and low birth weight infants are likely to give false positive 17-OHP findings, therefore, cutoff values for these infants should be determined based on gestational weeks or birth weight. ACTH simulation test is helpful when the 17-OHP shows equivocal increase, and it is gold standard for diagnosis of NC type. Recently, liquid chromatography linked with tandem mass spectrometry was developed for rapid, highly specific, and sensitive analysis of multiple analytes. Molecular analysis of CYP21A2 is useful for confirming diagnosis of mild SV or NC type, predicting prognoses, and genetic counseling. In order to make newborn screening for 21-OHD more efficient, early detection of boy with SW type, early determination of girl with ambiguous genitalia, detection of NC type, and overcoming of false positive in premature and low birth weight infants should be considered. Above all, early treatment should be started when the patient is suspected as having 21- OHD clinically before confirming the diagnosis to prevent adrenal crisis. Here, author reviewed recent articles of guideline and proposed guideline for 21-OHD.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.2
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• pp.109-114
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• 2016

Carbamoyl phosphate synthetase 1 (CPS1) deficiency is an autosomal recessive urea cycle disorder which causes hyperammonemia. CPS1 is the first enzyme step in the urea cycle and almost patients present their symptoms during neonatal period. We report a case of CPS1 deficiency in a boy who developed symptoms including lethargy and seizure at 3 days of age. The ammonia level was up to $2,325{\mu}mol/L$, sodium benzoate (250 mg/kg/d) and high calories of both dextrose and lipid was promptly administered. Central access by experienced pediatric surgeon and emergent continuous hemodialysis by pediatric nephrologist was performed within 3 hours and ammonia was less than $100{\mu}mol/L$ at 5 days of age. Currently, he has showed excellent response to treatments including scavenging drugs and a low-protein diet. Despite of diffuse increasing signal intensity on cerebral white matters and basal ganglia on brain MRI, his development and weight gain were good at the last follow-up at 11 months of age. Molecular assay of the CPS1 gene demonstrated that patient had compound heterozygous for c.1529del ($p.Gly510Alafs^*5$) in exon 14 and c.3142-1G>C (IVS25(-1)G>C) in intron 25 and exon 26 boundary. The splicing mutation was novel mutation and inherited from patient's mother. Here, we report a neonatal lethal type CPS1 deficiency patient having novel mutation.