• The Journal of Korea Assosiation for Disability and Oral Health
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• v.12 no.1
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• pp.11-15
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• 2016

Angelman syndrome is characterized by a partial deficit of paired autosomal chromosome 15, which contains a subunit of the GABA (Gamma-Amino Butyric Acid) receptor. The main clinical characteristics of this syndrome are delayed neuropsychological development, intellectual disability, and speech impairment. The syndrome has oral manifestations such as diastemas, tongue thrusting, sucking swallowing disorder, and excessive chewing behavior. A 3-year-6-month old girl with Angelman syndrome was scheduled for dental treatment. She had multiple caries, but she was poorly cooperative for treatment due to developmental delay and movement disorder, so general anesthesia was considered. The patient with Angelman syndrome was successfully treated under general anesthesia. There were no postoperative complications related to anesthesia and dental treatment. When treating children with this syndrome, the dentist needs to manage their uncooperative behavior and medical problem.

• The Journal of Korean Academy of Sensory Integration
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• v.13 no.2
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• pp.53-61
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• 2015

Objective : The purpose of this study was to investigate the effects on sensory integration interventions for korean children which focused on vestibular - proprioceptive system. Methods : Authors systematically searched published studies in DBpia, KISS and RISS databases from August to September 2015. Key words in the search were 'sensory integration intervention', 'sensory integration therapy' and 'vestibular-proprioceptive'. By using the inclusion and exclusion criteria, we selected seven studies for further analyses examining level of evidence and methodological qualities. Information for the analyses were on study designs, participants, interventions, outcome measures and results. Results : Grade IV rated evidence was found from five studies, and Grade III and Grade V rated evidence was found from one for each study. The methodological levels of the quantitative studies were 'fair' (2) and 'poor' (5). Subjects for the studies were developmental delay (5), Asperger Syndrome (1), and not specific diagnosis (2). Single-subject design was most frequently used and motor area were most frequently evaluated. The interventions used the studies showed positive effects on outcome measures. Conclusion : This study presented the summary of sensory integration intervention based on vestibular-proprioceptive system for Korean children. More studies with high level of evidence and various study designs need to be followed.

• The Journal of the Korea Contents Association
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• v.13 no.11
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• pp.1004-1013
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• 2013

The purpose of this study was to investigate the effect of education of natural disaster on eco-friendly attitude of children in integrated class in the lower grades in elementary school. For the above mentioned purpose, 2 children with developmental delay and 45 general children enrolled in two integrated classes in the first grade in C Elementary School located in G City. The class that wanted to participate in this program was designated as an experimental group and the other class as a comparative group. Total 18 times of session of experimental treatment were performed during the second semester of the first grade. The effect of education of natural disaster was measured by using the tool revised and adapted by Heoh, Yun Jeong on the basis of CATES-PV designed by Musser and Diamond. As results, it was appeared that education of natural disaster was effective to increase eco-friendly attitude of children in integrated class in the lower grades in elementary school. The results that ability and attitude which were goals of the current education related to environment such as love and concern for animals and plants, life respect consciousness, preference for natural environment rather than artificial environment, conservation of nature and resources saving etc of children who received education of natural disaster suggest necessity to rethink the meaning and scope about education of natural disaster for Korean children in the preset.

• Journal of the Korean Society of Food Science and Nutrition
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• v.37 no.11
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• pp.1422-1426
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• 2008

The purpose of this study was to test characteristics between normal and autistic children via comparison of nutrient intakes, hair mineral, blood free radical, and serotonin contents. A total of 50 children aged 3-9 were divided into two main groups of normal control children (n=22) and autistic children (n=28) tested by child psychiatrist. The nutrient intakes by 24-hour recall method were no significantly different between the two groups. The concentrations of toxic mineral, such as cadmium (Cd) and lead (Pb) in hair of autistic children were significantly higher, while concentration of antioxidant mineral (Cu, Zn, Fe) was lower than that of normal children. The autistic children had significantly higher concentrations of blood free radical than that of normal children. No significant difference was observed in serotonin concentration between the two groups. Our results suggest a possible role of increased toxic mineral and free radical, both of which may be relevant to the pathophysiology of autism in children with developmental delay.

• Pediatric Infection and Vaccine
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• v.24 no.1
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• pp.65-70
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• 2017

Cytomegalovirus (CMV) infection is one of the most common congenital infections. The first case of discordant congenital CMV infection in twins occurred in Korea. A 31-year-old woman became pregnant with twins (dichorionic-diamniotic). An elective caesarean section was performed at 37 weeks. The first baby was male, weighing 2,410 g with an Apgar score of 8/9. The second baby was female, weighing 1,380 g with an Apgar score of 5/8. She had experienced intrauterine growth retardation, and presented with microcephaly, micrognathia, and joint stiffness. During the work-up for discordant twins, the second baby's serum test was positive for CMV immunoglobulin M. Her urine, blood, and cerebrospinal fluid (CSF) were CMV polymerase chain reaction positive. The first baby's CMV tests were negative. Ophthalmologic exam and audiometry performed on the second baby showed CMV retinitis and bilateral sensorineural hearing loss. She was treated with intravenous ganciclovir. Currently, she is bed-ridden and has significant developmental delay. Although the causes of discordant congenital CMV infection in twins are unclear, this case shows that discordant congenital CMV infection should be considered in twins with significant differences in intrauterine growth or clinical symptoms after birth.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.44-48
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• 2015

Mucopolysaccharidosis (MPS) IIIA is a lysosomal storage disorder caused by abnormalities of the enzyme Heparan N-sulfatase that is required for degradation of heparan sulfate. The patient in this study was a 5 year-old boy who presented with macrocephaly and developmental delay. Urinary excretion of glycosaminoglycan was increased (26 g/moL creatinine, reference range: <7 g/moL creatinine) and a distinct band of heparan sulfate was shown in electrophoresis. Heparan N-sulfatase activity was significantly decreased in skin fibroblasts (0.2 pmoL/min/mg protein, reference range: 9-64 pmoL/min/mg protein). PCR and direct sequencing analysis of the SGSH gene showed compound heterozygous mutations: c.1040C>T (p.S347F) and c.703G>A (p.D235N). This is the first report for a Korean patient with MPS IIIA who was confirmed by biochemical investigation and molecular genetic analyses.

• Journal of Life Science
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• v.18 no.3
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• pp.304-310
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• 2008

Heat shock protein 70 (HSP70) is known as molecular chaperone, the fundamental protein participating in various processes, from nascent protein synthesis to protection of proteins during abiotic stresses and developmental programs. However, their biological functions in plants are not yet well known. Here, NtHSP70-1 (AY372069), HSP70 of Nicotiana tabacum induced by heat stress was investigated. To analyze the protective role of NtHSP70-1, transgenic tobacco plants, which constitutively overexpressed NtHSP70-1 as well as contained either the vector alone or having NtHSP70-1 in the antisense orientation, were constructed. The altered NtHSP70-1 levels in plants were confirmed by western blotting and transgenic sense lines exhibited tolerance to heat stress. Seedlings with the constitutively expressed NtHSP70-1 grew as green or healthy plants after heat stress. In contrast, transgenic vector or antisense lines exhibited yellowing of leaves or some delay in growth, which finally led to death. Evaluation of chlorophyll contents of heat-shocked transgenic tobacco seedlings indicated that NtHSP70-1 contributes to thermotolerance by preventing chlorophyll synthesis in plants.

• Sleep Medicine and Psychophysiology
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• v.11 no.1
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• pp.50-54
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• 2004

The obstructive sleep apnea syndrome can occur due to various etiologies in children. In otherwise healthy children, adenotonsillar hypertrophy is the leading cause of childhood obstuctive sleep apnea. Obstructive sleep apnea caused by adenotonsillar hypertrophy can lead to a variety of symptoms and sequelae such as behavioral disturbance, enuresis, failure to thrive, developmental delay, cor pulmonale, and hypertension. So if obstructive sleep apnea is clinically suspected, proper treatment should be administered to the patient after diagnostic examinations. More than 80% improvement is seen in symptoms of obstructive sleep apnea caused by adenotonsillar hypertrophy in children after tonsillectomy and adenoidectomy. However, when it is impossible to treat the patient using surgical methods or residual symptoms remained after tonsillectomy and adenoidectomy, additional treatments such as weight control, sleep position change, and continuous positive airway pressure (CPAP), should be considered. This paper reports a case using weight control and Auto-PAP to control mild sleep apnea and snoring, which in long-term follow-up were not resolved after tonsillectomy and adenoidectomy for severe obstructive sleep apnea.

• Clinical and Experimental Reproductive Medicine
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• v.26 no.1
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• pp.43-54
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• 1999

Klinefelter's syndrome is a very important disease in gynecologic endocrinologic fields, because the patients with this karyotype complain of infertility, azospermia and ambiguous genitalia. Y chromosome is an important chromosome which determine genetic sex and the structure of gonad and genitalia. In this study, to elucidate the cytogenetic characteristics and clinical features of Klinefelter's syndrome and Y chromosomal abnormalities in Korea, we studied 303 cases of Klinefelter's syndrome and 11 cases of Y chromosomal abnormalities which were diagnosed by chromosomal analysis at the Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University for 12 years from January 1984 to December 1996. The results of this study showed as follows: 1. In a total of 9275 cases, there were 303 cases (3.3%) of Klinefelter's syndromes, 11 cases (0.1%) of Y chromosomal abnormalities. 2. In 102 cases of patients showed typical clinical features of Klinefelter's syndrome, 101 cases (99%) of them were diagnosed to Klinefelter's syndrome in karyotyping. 3. In 303 cases of Klinefelter's syndrome, there were 277 cases (91.4%) of 47,XXY complement, 16 cases (5.3%) of mosaicism, 2 cases (0.7%) of 48,XXXY, 5 cases (1.7%) of 48,XXYY and 3 cases (1.0%) of 49,XXXXY. 4. In 303 cases of Klinefelter's syndrome, 284 cases (93.7%) of them were diagnosed after puberty and only 19 cases (6.3%) of them were diagnosed before puberty. 5. In 303 cases of Klinefelter's syndrome, there were 146 cases (48.2%) of patients with infertility-associated chief complaints, 101 cases (33.3%) of patients with typical clinical features of Klinefelter's syndrome, 22 cases (7.3%) of patients with ambiguous genitalia. 6. In patients with Klinefelter's syndrome, 48,XXYY and 49,XXXXY had serious symptoms such as mental retardation, developmental delay, Down syndrome-like features, congenital anomalies, but 48,XXYY and other mosaicisms had infertility-associated symptoms or ambiguous genitalia. 7. The 8 cases of polysomy Y (XYY complement) showed several serious symptoms such as Down syndrome-like features, mental retardation, fragile X syndrome-like feature, congenital anomalies, ambiguous genitalia which could be detected before puberty.

• Journal of Genetic Medicine
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• v.7 no.1
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• pp.37-44
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• 2010

Purpose : Kabuki syndrome is a multiple congenital malformation syndrome with mental retardation. It was named after its characteristic appearance, a face resembling that of an actor in a Kabuki play. To date, six Korean cases of Kabuki syndrome have ever been reported. Here, we present the phenotypic and genetic characteristics of six patients with Kabuki syndrome. Materials and Methods : Between 2003 and 2009, six Korean girls have been diagnosed and followed up as Kabuki syndrome at Center for Genetic Diseases of Ajou University Hospital. Their clinical and laboratory data were collected and analyzed by the retrospective review of medical records. Results : All six patients showed the characteristic facial dysmorphism and developmental delay. Persistent fingertip pads were also found in all patients. Most patients showed postnatal growth retardation (83.3%) and hypotonia (83.3%). Opthalmologic problems were common, particularly for strabismus (83.3%). Congenital heart defects were present in three patients (50%). Skeletal abnormalities including 5th finger shortening (83.3%), clinodactyly (50%), joint hypermobility (50%) and hip dislocation (16.7%) were also observed. There was no patient who had positive family history for Kabuki syndrome. Cytogenetic and molecular cytogenetic analyses including karyotyping and array CGH could not reveal any underlying genetic cause of Kabuki syndrome. Conclusion : Korean patients with Kabuki syndrome showed a broad spectrum of clinical features affecting multiple organ systems. Although clinical manifestations of Kabuki syndrome have been well established, our results failed to detect recurrent chromosome aberrations which could cause Kabuki syndrome. Its natural history and genetic background remains to be further studied for providing appropriate management and genetic counseling.