• Journal of Korean society of Dental Hygiene
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• v.7 no.1
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• pp.61-72
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• 2007

The purposes of this study were to investigate the oral health status of the disabled children attending special schools in Seoul and Gyeonggi area, which were to collect baseline data for set up a oral health center in special schools. The study group comprised 915 disabled children aged 12~15 year. They were examined clinically and surveyed on 4 oral health related characteristics according to the type and level of disabilities The results may be summarized as follows: 1. DMFT index was the highest in children with crippled disorder. The plaque control was more required to the children with mental retardation or developmental disorder other than another types of disabilities. 2. About one third of the children with mental retardation or developmental disorder had their teeth brushed at least 3 times daily without any help. Over the half of the children with crippled disorder had their teeth brushed 2 times daily, 33.3% were independent and 38.9% totally dependent on help from others. 3. The more level of disabilities was higher, the more frequency of tooth brushing was lower and degree of dependance of the tooth brushing was higher. 4. There was tendency to visit to dental office more frequently for relief of dental symptoms in children with crippled disorder 5. The inability to call for help from others was the major barrier to dental care for the disabled.

• Childhood Kidney Diseases
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• v.8 no.1
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• pp.57-62
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• 2004

Schinzel-Giedion syndrome is a rare, distinct dysmorphic syndrome characterized by congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation, likely to be inherited as an autosomal recessive trait, but not yet confirmed. This syndrome is characterized by coarse facial features such as midfacial retraction, bulging forehead, short nose with anteverted nostrils, low-set malformed ears, protruding large tongue, and hypertelorism. Skeletal and limb defects, choanal stenosis, simian creases, hypospadias, microphallus, hypertrichosis, and intractable seizures are the frequently associated clinical findings. Urogenital involvement is a major component of the syndrome, and this problem sometimes is associated with nephrocalcinosis and urinary tract infection in the clinical course of the disease. We report a 22 month-old girl with Schinzel-Giedion syndrome complicated by medullary nephrocalcinosis and urinary tract infection due to Klebsiella pneumoniae. This patient had also been suffering from postnatal growth deficiency, intractable seizure, spastic tetraplegia, delayed development and severe mental retardation.

• Journal of the Korean Society of Food Science and Nutrition
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• v.27 no.4
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• pp.705-711
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• 1998

The digestibility of xylooligosaccharide(XO) by juices of the digestive tract and retardation effect of XO on the adsorption of bile acids were compared with fructooligosaccharide(FO) and isomaltooligosaccharide(IO). In vitro digestion experiments showed that any hydrolyzed products of FO, IO and XO were not detected by HPLC after reaction with saliva, pancreatic, artifical intesteinal, and large intestinal luices, and artifical sera for 4 hours at 37$^{\circ}C$. However, IO were mostly digested by the small intestinal juice, and some quantity of FO were digested. XO were not digested at all by any enzyme of digestive tract. In order to investigate retardation effect of XO on the bile acid absorption. In vitro, permeability of bile acid against dialysis membrane was determined in the mixture which contained guar gum instead of XO was set 100%. The premeability of bile acid showed about 50% in the FO and IO mixture and 43% in the XO mixture. The activity of lactase in FO group and activity of sucrase and maltase in XO group in rat small intestinal mucosa were significantly decreased. Consequently, the present results indicate that XO is indigestible in digestive tract and has retarding effect of adsorption of bile acid compared with the other oligosaccharides. The disaccharidase activity of the XO dietary group was lower than that of the other oligosaccharides dietary group. Furthermore, it was suggested that hydrolysis of sugar may be retarded in digestive tract and glucose level in blood may be controlled effectively by the XO.

• Journal of the Korean Ceramic Society
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• v.22 no.6
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• pp.15-20
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• 1985

In the course of cement hydration it was found that the addition of polyvinyl alcohol(contracted as PVA. here after) only in the cement paste could more influence on the set-retardation the depression of heat evol-ution rate than that of montmorillonit only or PVA-montmorillonie intercalation complex (PMIC) due to the effective adsorption of PVA on cement particles. The improved mechanical strength by addition of montmorillonite and PMIC was observed remarkably up to 0.05wt% due to the decrease of macro-pores caused by lowed viscosity or the acceleration of hydration reaction.

• Journal of Genetic Medicine
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• v.18 no.1
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• pp.60-63
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• 2021

Gabriel-de Vries syndrome, caused by the mutation of YY1, is a newly defined genetic syndrome characterized by developmental delay, facial dysmorphism, and intrauterine growth retardation. A 7-month-old girl presented developmental delay and subtle facial dysmorphism including facial asymmetry, micrognathia, and low-set ears. Whole exome sequencing identified a de novo heterozygous missense variant in the YY1 (c.1220A>G; p.His407Arg) gene. Here, we examined the clinical and genetic characteristics of an infant with a novel likely pathogenic variant of YY1. This case expands the phenotypic spectrum of Gabriel-de Vries syndrome.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.14-18
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• 2016

Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000-10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of epilepsy with profound developmental delay and characteristic phenotypes. A 7-year-and 6-month-old boy experienced afebrile generalized seizure at the age of 5 years and 3 months. He had recurrent febrile seizures since 12 months of age and showed severe global developmental delay, remarkable hypotonia, short stature, and dysmorphic features such as microcephaly; small, low-set ears; dark, straight eyebrows; deep-set eyes; flat nasal bridge; midface hypoplasia; and a small, pointed chin. Previous diagnostic work-up, including conventional chromosomal analysis, revealed no definite causes. However, array-comparative genomic hybridization analysis revealed 1p36 deletion syndrome with a 9.15-Mb copy loss of the 1p36.33-1p36.22 region, and fluorescence in situ hybridization analysis (FISH) confirmed this diagnosis. This case highlights the need to consider detailed chromosomal study for patients with delayed development and epilepsy. Furthermore, 1p36 deletion syndrome should be considered for patients presenting seizure and moderate-to-severe developmental delay, particularly if the patient exhibits dysmorphic features, short stature, and hypotonia.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.4 no.1
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• pp.12-16
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• 2008

Williams syndrome is a rare genetic disorder with a frequency of one per 20,000~50,000 live births. It is caused by a deletion of one elastin allele located within chromosome subunit 7q11.23(long arm). This syndrome is frequently accompanied by disorders such as congenital heart disease, facial anomalies, mental retardation, and so on. The characteristic facial appearance includes full lips, rounded cheeks, broad forehead, periorbital fullness, flattened bridge of nose, small nose with anteverted nostril, long filtrum and low-set ears. In oral features, hypodontia, high prevalence of dental caries, microdontia, enamel hypoplasia, delayed eruption, and malocclusions have been found. Most adult patients with Williams syndrome lack social adaptability and lead seclusive lives, however, young patients are rather very friendly and talkative, and seem smarter than their actual intellectual quotients. They also tend to favor staying with grown-ups rather than mixing with their peers, and tend to present problematic temper tantrum during dental treatment.

• Journal of Oriental Neuropsychiatry
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• v.14 no.2
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• pp.15-25
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• 2003

Objectives : This study aimed investigation of clinical development to child neuropsychiatry through the oriental western medical approach of child neuropsychiatric disorders Methods : As DSM-IV and ICD-10 set a standard for clinical expression. According to this standard and oriental medical diseases, child neuropsychiatric disorders are divided into six symptoms Results and Conclusion : 1. View point of oriental medicine, Psycho Somatic stroke(inclusive of the spasm) place under the category 'Epilepsy(癎)', 'Children's fit(驚風)' and 'Chi-Kyeung(?痙)'. 2. View point of oriental medicine, Mental Retardation place under the category 'Dementia(?)', 'Amnesia(健忘)' and 'Speech Disorder(語遲)' 3. View point of oriental medicine, Emotional Disorder place under the category 'Adjustment Disorder(客?)', 'Cry with anxiety at night(夜啼症)', 'Gi-Byung(?病)' and 'Child depressive Disorder(小兒癲症)' 4. View point of oriental medicine, Conduct development Disorder place under the category 'Physical frail of five part(五軟)' and 'Physical stiff of five part(五硬)'. 5. View point of oriental medicine, Childhood Psychosis place under the category 'Insanity(癲狂)'. 6. View point of oriental medicine, Somatoform Disorder place under the category 'Palpitation of the heart(驚悸)', 'Vomiting and Diarrhea(吐瀉)', 'Asthma(喘)', 'Headache(頭痛)' and 'Enuresis(遺尿)'

• Molecules and Cells
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• v.25 no.2
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• pp.272-278
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• 2008

The carbon-ion beam (CIB) generated by the heavy-ion medical accelerator in Chiba (HIMAC) was targeted to 7-day-old rice. Physiological parameters such as growth, and gene expression profiles were examined immediately after CIB irradiation. Dose-dependent growth suppression was seen three days post-irradiation (PI), and all the irradiated plants died by 15 days PI. Microarray (Agilent rice 22K) analysis of the plants immediately after irradiation (iai) revealed effects on gene expression at 270 Gy; 353 genes were up-regulated and 87 down-regulated. Exactly the same set of genes was affected at 90 Gy. Among the highly induced genes were genes involved in information storage and processing, cellular processes and signaling, and metabolism. RT-PCR analysis confirmed the microarray data.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.7 no.2
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• pp.123-126
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• 2011

Noonan syndrome (NS) is a developmental disorder characterized by dysmorphic facial features in association with short stature, mental retardation and congenital heart disease. NS may be sporadic or inherited as an autosomal dominant or recessive trait. The children with NS usually have ocular hypertelorism, downslanting palpebral fissures, low-set ears and a webbed neck, chest deformity. In addition, oral features include micrognathia, high arched palate, dental malocclusion, dental anomalies and rarely, cleft palate. The phenotype of NS bears similarities to that of Turner syndrome. However, NS occurs in both males and females with a normal sex chromosome 46, XX and 46, XY constitution. This case presents the intermittent treatment of an 8-year-old girl who was referred from a local clinic for the extraction of supernumerary teeth and treatment of dental caries. The focus of this case report is the oral aspects on NS and particularities of the dental treatment in subjects affected by this genetic disease.