• Sleep Medicine and Psychophysiology
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• v.3 no.2
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• pp.65-76
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• 1996

Natural sleep pattern and its physiology in childhood are much different from those in adulthood. Several aspects of clinical evaluation for sleepiness in childhood are more difficult than in adulthood. These difficulties are due to several factors. First, excessive sleepiness in childhood do not always develop functional impairments. Second, objective test such as MSLT may not be reliable since it is hard to be certain that the child understand instructions. Third, sleepiness in children is often obscured by irritability. paradoxical hyperactivity, or behavioral disturbances. Anseguently, careful clinical evaluation is needed for the sleepy children. Usual causes of sleepiness in children are the disorders that induce insufficient sleep such as sleep apnea syndrome, schedule disorder, underlying medical and psychiatric disorder, and so forth. After excluding such factors, we can diagnose the hypersomnic disorders such as narcolepsy, Kleine-Levin syndrome, and idiopathic central nervous system hypersomnia. Among the variety of those causes of sleepiness, I reviewed the clinical difference of narcolepsy and obstructive sleep apnea syndrome in childhood compared with in adulthood. Recognition of the childhood narcolepsy is difficult because even severely sleepy children often do not develop pathognomic cataplexy and associated REM phenomena until much later. Since childhood narcolepsy give srise to many psychological, academical problem. Practicers should be concerned about these aspects. Childhood obstructive sleep apnea syndrome is different from adult obstructive sleep apnea syndrome too. Several aspects such as pathophysiology. clinical feature, diagnostic criteria, complication, management, and prognosis differ from those in the adult syndrome. An important feature of childhood obstructive sleep apnea syndrome is the variety of severe complications such as behavioral disorders, cognitive impairment, cardiovascular symptoms, developmental delay, and ever death. Fortunately, surgical interventions like adenotosillectomy or UPPP are more effective for Childhood OSA than adult form. CPAP is a "safe, effective, and well-tolerated" treatment modality too. So if early detection and proper management of childhood OSA were done, the severe complication would be prevented or ever cured.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.45-48
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• 2016

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid ${\beta}$-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in spectrometric screening for inborn errors of metabolism have helped detect several metabolic disorders, including SCADD, without symptoms in the neonate period. This allows immediate initiation of treatment and monitoring, so they remain largely symptomless metabolic disease. Here, we report a 15-month-old asymptomatic male, who was diagnosed with SCADD by newborn screening. Spectrometric screening for inborn errors of metabolism 72 hours after birth revealed an elevated butyrylcarnitine (C4) concentration of $2.25{\mu}mol/L$ (normal, < $0.99{\mu}mol/L$). Urinary excretion of ethylmalonic acid was also elevated, as detected by urine organic acid analysis. To confirm the diagnosis of SCADD, direct sequencing analysis of 10 coding exons and the exon-intron boundaries of the ACADS gene were performed. Subsequent sequence analysis revealed compound heterozygous missense mutations c.164C>T (p.Pro55Leu) and c.1031A>G (p.Glu344Gly) on exons 2 and 9, respectively. The patient is now growing up, unretarded by symptoms such as seizure and developmental delay.

• Clinical and Experimental Pediatrics
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• v.53 no.4
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• pp.598-602
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• 2010

Transient hyperammonemia in a newborn is an overwhelming disease manifested by hyperammonemic coma. The majority of affected newborns are premature and have mild respiratory syndrome. The diagnosis may be difficult to determine. This metabolic disorder is primarily characterized by severe hyperammonemia in the postnatal period, coma, absence of abnormal organic aciduria and normal activity of the enzymes of the urea cycle. Hyperammonemic coma may develop within 2-3 days of life, although its etiology is unknown. Laboratory studies reveal marked hyperammonemia (>$4,000{\mu}mol/L$). The degree of neurologic impairment and developmental delay in this disorder depends on the duration of hyperammonemic coma. Moreover, the infant may succumb to the disease if treatment is not started immediately and continued vigorously. Hyperammonemic coma as a medical emergency requires dialysis therapy. Here, we report a case of severe transient hyperammonemia in a preterm infant (35 week of gestation) presented with respiratory distress, seizure, and deep coma within 48 hours and required ventilatory assistance and marked elevated plasma ammonia levels. He survived with aggressive therapy including peritoneal dialysis, and was followed 2 years later without sequelae.

• Fisheries and Aquatic Sciences
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• v.16 no.4
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• pp.253-260
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• 2013

We investigated the toxicological effects of Aroclor 1254 on the fertilized eggs, embryos and larvae of the olive flounder Paralichthys olivaceus. The survival rate and hatching success of the embryos decreased significantly in treated groups in an Aroclor 1254-dose-dependent manner. Significant differences were found at ${\geq}5{\mu}g/L$ Aroclor 1254 compared to the control group. Hatching success occurred at ${{\leq}}10{\mu}g/L$ Aroclor 1254, which was not significantly different to the control. Embryo malformation increased significantly at ${\geq}1{\mu}g/L$, and included yolk-sac and tail-flexure abnormalities. There was a significant decrease in the survival rate of the larvae at ${\geq}5{\mu}g/L$, which was accompanied by the malformations described above. Notably, concentrations as low as $1{\mu}g/L$ caused a significant increase in abnormalities in the larvae, including incidences of multi-focal hemorrhages, pericardial and yolk-sac edema, inhibition of swim bladder inflation and severe developmental delay. The responses to Aroclor 1254-induced toxicity were generally similar among fertilized eggs, embryos and larvae from three separate flounder hatcheries: Cheju Island, Yeosu and Chungnam, South Korea. These results indicate the high acute toxicity of Arolcor 1254 concentrations of which as low as $1{\mu}g/L$ in olive flounder larvae can affect unhatched embryos. To conclude, the average $LC_{50}$ values for Aroclor 1254 in the embryos and larvae were 50.92 and $3.08{\mu}g/L$, respectively. Additionally, the average $EC_{50}$ values, based on the rate of damage were 14.72 and 5.6$1{\mu}g/L$, respectively.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.178-181
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• 2014

Hunter syndrome (mucopolysaccharidosis type II, MPS II) is a X-linked lysosomal storage disease caused by a deficiency in the lysosomal enzyme, iduronate-2-sulfatase (IDS), leading to accumulation of glycosaminoglycans within lysosomes of many organs and tissues. Since the enzyme replacement therapy was approved and available in the treatment of MPS I, II, VI, early diagnosis and early therapy can bring the better prognosis of disease and the better quality of life in patients. We described a 2.5 year old child presented with frequent otitis media and developmental delay including speech impairment, who was diagnosed as Hunter syndrome with IDS NM_000202.5:c. 263G>A(p.Arg88His) mutation.

• Journal of the korean academy of Pediatric Dentistry
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• v.38 no.1
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• pp.56-61
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• 2011

Cornelia de Lange syndrome(CdLS) is a well-described multiple malformation syndrome typically involving proportionate small stature, developmental delay, specific facial features, major malformations, and behavioral abnormalities. Dental issues include micrognathia, crowding of teeth, small teeth, absent teeth, poor oral hygiene, and periodontal disease. We present a case of CdLS in a 10-year-old girl. Micrognathia, crowding of teeth, and bifid uvula are the characteristic features of this case. Dental treatments for this child including preventive and restorative procedures were performed under outpatient general anesthesia.

• BMB Reports
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• v.35 no.2
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• pp.213-219
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• 2002

Malonyl-CoA decarboxylase (E.C.4.1.1.9) catalyzes the conversion of malonyl-CoA to acetyl-CoA. Although the metabolic role of this enzyme has not been fully defined, it has been reported that its deficiency is associated with mild mental retardation, seizures, hypotonia, cadiomyopathy, developmental delay, vomiting, hypoglycemia, metabolic acidosis, and malonic aciduria. Here, we isolated a cDNA clone for malonyl CoA decarboxylase from a rat brain cDNA library, expressed it in E. coli, and characterized its biochemical properties. The full-length cDNA contained a single open-reading frame that encoded 491 amino acid residues with a calculated molecular weight of 54, 762 Da. Its deduced amino acid sequence revealed a 65.6% identity to that from the goose uropigial gland. The sequence of the first 38 amino acids represents a putative mitochondrial targeting sequence, and the last 3 amino acid sequences (SKL) represent peroxisomal targeting ones. The expression of malonyl CoA decarboxylase was observed over a wide range of tissues as a single transcript of 2.0 kb in size. The recombinant protein that was expressed in E. coli was used to characterize the biochemical properties, which showed a typical Michaelis-Menten substrate saturation pattern. The $K_m$ and $V_{max}$ were calculated to be $68\;{\mu}M$ and $42.6\;{\mu}mol/min/mg$, respectively.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.26 no.3
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• pp.217-225
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• 2015

Objectives : The objective of this study was to compare the Korean Personality Rating Scale for Children (K-PRC) profile between children with attention-deficit hyperactivity disorder (ADHD) and typically developing children. We also aimed to investigate the association of K-PRC and ADHD symptoms. Methods : Ninety-nine youth (age $8.3{\pm}2.4$ years, 72 boys) with ADHD and 84 controls (age $9.2{\pm}2.5$ years, 43 boys) were recruited from the Department of Pediatric Psychiatry of the Asan Medical Center Children's Hospital. Diagnoses of ADHD and comorbid psychiatric disorders were confirmed with the Kiddie-Schedule for Affective Disorders and Schizophrenia-Present and Lifetime Version (K-SADS-PL). The parents of the subjects completed the ADHD rating scale, and K-PRC. Independent t-tests, analysis of covariance, partial correlation analyses, and Mc Nemar test were used for analysis. Results : Children and adolescents with ADHD showed higher K-PRC scores in verbal development, physical development, depression, delinquency, hyperactivity, family dysfunction and psychoticism. Delinquency and hyperactivity were significantly correlated with parent-rated ADHD rating scales and ADHD scores on K-SADS-PL. The hyperactive/impulsive and combined subtypes showed higher scores on hyperactivity and delinquency than the inattentive subtype, and the inattentive subtype showed higher scores on depression and social dysfunction of the K-PRC. Conclusion : Our results suggest that K-PRC could be used to comprehensively evaluate symptoms, combined psychopathologies, developmental delay and family dysfunction of children with ADHD.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.12 no.2
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• pp.72-76
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• 2016

Traumatic dental injury (TDI) is a common problem in children and adolescent. The prevalence of dental trauma among children with disability as compared to healthy children. The TDI of an immature permanent tooth can lead to the loss of pulp vitality and arrested root development. Traditionally, the treatment of choice for necrotic immature tooth is apexification, which is induction of hard tissue barrier at the apex to produce more favorable conditions for conventional root canal filling. This case report describes the treatment of a necrotic immature permanent central incisor with complicated crown fracture. The patient had multiple disabilities (cerebral palsy, congenital heart disease, developmental delay, and gait disturbance) and suffered from She was suffered from repetitive traumatic injury. Apexification and resin restoration was performed under general anesthesia, and favorable clinical results were achieved.

• Journal of Genetic Medicine
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• v.13 no.2
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• pp.99-104
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• 2016

$Cant{\acute{u}}$ syndrome (CS, OMIM 239850) is a very rare autosomal dominantly inherited genetic disease characterized by congenital hypertrichosis, neonatal macrosomia, a distinct facial features such as macrocephaly, and cardiac defects. Since the first description by $Cant{\acute{u}}$ et al. in 1982, about 50 cases have been reported to date. Recently, two causative genes for CS has been found by using exome sequencing analyses: ABCC9 and KCNJ8. Most cases of clinically diagnosed CS have resulted from de novo mutations in ABCC9. In this study, we report three independent Korean children with CS resulting from de novo ABCC9 mutations. Our patients had common clinical findings such as congenital hypertrichosis, distinctive facial features. One of them showed severe pulmonary hypertension and hypertrophic cardiomyopathy, which require medical treatment. And, two patients had a history of patent ductus arteriosus. Although two of our patients had shown early motor developmental delay, it was gradually improved during follow-up periods. Although CS is quite rare, there are the concerns about development of various cardiac problems in the lifetime. Therefore, an accurate diagnosis followed by appropriate management and genetic counseling should be provided to CS patients.