• Clinical and Experimental Pediatrics
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• v.57 no.5
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• pp.240-244
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• 2014

Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations within the Gs alpha-encoding GNAS exons. A 9-year-old boy presented with clinical and laboratory abnormalities including hypocalcemia, hyperphosphatemia, PTH resistance, multihormone resistance and AHO (round face, short stature, obesity, brachydactyly and osteoma cutis) which were typical of PHP Ia. He had a history of repeated convulsive episodes that started from the age of 2 months. A cranial computed tomography scan showed bilateral calcifications in the basal ganglia and his intelligence quotient testing indicated mild mental retardation. Family history revealed that the patient's maternal relatives, including his grandmother and 2 of his mother's siblings, had features suggestive of AHO. Sequencing of the GNAS gene of the patient identified a heterozygous nonsense mutation within exon 11 (c.637 C>T). The C>T transversion results in an amino acid substitution from Gln to stop codon at codon 213 ($p.Gln213^*$). To our knowledge, this is a novel mutation in GNAS.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.10 no.1
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• pp.38-42
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• 2014

A tracheostomy tube serves as airway management for patients whose respiration is impeded due to inflammation, tumor, or traumatic events. If the patients who have tracheostomy tube, visit dental clinic for dental treatments, we should consider the underlying general condition of patients and then make treatment plans according to their state. A 22-Year old male patient, who had tracheostomy tube on his neck, came to our department for comprehensive dental treatment. Mild mental retardation was observed and he was taking anti-convulsant drugs for the prevention of epileptic seizure. Multiple advanced dental caries, hopeless teeth, and impacted third molars were also observed by clinical and radiographic examination. Due to the risk of epileptic seizure and low cooperativity to tolerate the treatment, general anesthesia was recommended by physician, and the anti-convulsant drug was administrated during procedure. In this case, we aimed to report the multidisciplinary approach for the dental treatment of patient having a tracheostomy tube.

• 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 Pediatric Dentistry
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• v.49 no.2
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• pp.234-240
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• 2022

Floating-Harbor syndrome (FHS) is a rare genetic disorder. This report introduced in a patient with FHS. Distinctive facial characteristics, severe skeletal class 3 malocclusion with underdeveloped maxilla and protruded mandible, congenital missing teeth, microdontia and ectopic positions of maxillary teeth were presented in the patient. In his twin sister, mild skeletal class 3 malocclusion with protruded mandible was observed but congenital missing teeth and microdontia were not observed. High-arched palate, narrow V-shaped maxillary arch compared to wide and ovoid mandibular arch and inverse relationship between the maxillary and mandibular intermolar width resulted in posterior crossbite were confirmed by model analysis of the patient. These were not observed in the twins. Behaviorally, poor cooperation during dental treatment because of mental retardation was observed in the patient.

• 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 academy of Pediatric Dentistry
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• v.35 no.4
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• pp.725-730
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• 2008

Nevoid basal cell carcinoma syndrome is an ecto-mesodermal polydysplasia with numerous manifestations that affect multiple organs. The syndrome is an autosomal dominant inherited, with a high penetration and visible expression. The syndrome is characterized by a series of associated anomalies such as cutaneous, dentofacial, skeletal, ophthalmologic, neurological, and genital anomalies. Generally, the jaw cysts are multiple odontogenic keratocysts, affecting any area of maxilla and mandible. Multiple odontogenic keratocysts of this syndrome are more recurrent than the keratocysts of non-syndrome, thus they are treated aggressively for complete removal. We report a case of multiple jaw cysts associated with nevoid basal cell carcinoma syndrome. In clinical and radiological examinations, frontal bossing, hypertelorism, mild mental retardation and two odontogenic keratocysts in both the maxilla and mandible were observed. Two cysts were treated by marsupialization. For the management of eruption of unerupted teeth, periodic recall check and orthodontic treatment are required.

• 한국사회복지학회:학술대회논문집
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• 2002.04a
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• pp.497-531
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• 2002

It is very important for rehabilitation to deal with psychological aspects of persons with disabilities, as well as efforts improving the institutional and environmental conditions. A majority of persons with severe disabilities in the situation of Korea have difficulty in having and maintaining a job. Work should and would be a source of self-respect and material well-being in this modern society. Therefore, Vocational rehabilitation services are measures in restoration of family functions and social participation of persons with disabilities. This study aims at investigating linguistic characteristics and the validity of constructional concepts of picture interest test Inventories that have been utilized for the segregated groups of people such as persons with developmental disabilities. Picture interest test inventories seemed to be valid for measuring psychological traits and characteristics of people with mental retardation, and this finding can be extended to the group of other developmental disabilities, such as learning disabilities and mild/moderate behavioral deficits. The Holland classification system seemed to be best fitted for developing a comprehensive and accurate vocational interest inventory.

• Clinical and Experimental Pediatrics
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• v.45 no.3
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• pp.311-319
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• 2002

Purpose : We have performed this study to obtain reference data for the distribution of chromosomal aberrations in Korea. Methods : We analyzed 1,180 chromosomal study cases from Kwang ju Christian Hospital during the past 25 years. 756 cases suspected of characteristic chromosomal aberration syndromes and 424 cases with hermaphroditism, mild sexual abnormalities, multiple anomalies, or mental & growth retardation were included. Results : The male to female ratio of autosomal aberration syndromes was 1.2 : 1. 78.6% of autosomal aberrations were diagnosed under 1 year of age, whereas 89.8% of sex chromosomal aberrations were diagnosed over 12 years of age. Among 1,180 cases, 612 ones had chromosomal aberrations(51.9%) : 590 of 756 cases suspected of chromosomal aberration syndromes had aberrations( 78.0%), whereas 22 of 424 showing the above other features had aberrations(5.2%). Autosomal aberrations appeared in 514 cases(83.8%) and sex chromosomal aberrations appeared in 98 cases(16.2%). The most frequently observed abberation in autosomal aberrations was Down syndrome, followed by E, D, B, A and C group aberrations. The most common abberation in sex chromosomal aberrations was Turner syndrome, followed by Klinefelter syndrome and Fragile X syndrome. Conclusion : It is of vital importance that patients suspected of chromosomal aberrations undergo chromosomal analysis. Further advanced chromosomal staining and molecular genetic methods will raise the detection rate of chromosomal aberrations.

• Journal of Preventive Medicine and Public Health
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• v.27 no.2 s.46
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• pp.337-365
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• 1994

Rubella is a viral disease with mild constitutional symptoms and generalized rashes. In childhood, it is an inconsequential illness, but when it occurs during early pregnant period, there are significant risks of heart defects, cataract, mental retardation to the fetus. The series of congenital defects induced by rubella is called 'congenital rubella syndrome'. Many research have been performed to find out more effective prevention program on rubella. The objectives of this study are, first, to calculate the incidence rate of acute rubella infection and congenital rubella syndrome in Korea, second, to evaluate economic efficiency of several rubella vaccination policies and to offer data for the most reasonable decision on vaccination policy. Study populations are 663,312 children of one year-old in 1992. The author has performed cost-benefit analyses according to the three vaccination policies-U.S.A.'s. U.K.'s and Sweden's. In this Study, the author got the incidence rate of acute rubella infection using the catalytic model. In the meantime, the author used 50 per 100,000 live births as the incidence rate of congenital rubella syndrome. The discount rate used in this study was 5 percent per annum. The sensitivity analyses were done with different discount rates (4%, 7%) and different incidence rate of congenital rubella syndrome (10,100 per 100,000 live births) : The study results are as follows: 1. Without vaccination, lifetime expenditures per patient for acute rubella infeciton amount to 14,822 won and the total expenditures to about 3.1 billion won. Meanwhile, lifetime expenditures per patient for congenital rubella syndrome amount to about 91 million won and the total expenditures to about 16.3 billion won without vaccination. 2. The cost of vaccination for a child of one year old was 2,322 won and the total cost for the one year old children was about 1.5 billion won (American style). The cost for vaccination of female children at fifteen was about 339 million won (Birtish style). And the cost of vaccination at one for both sex and female children at fifteen was about 1.9 billion won (Swedish style). 3. The benefit to cost ratios of vaccination of female children at fifteen that is the british mode of rubella vaccination, was 60.0 at the level of 80% population coverage and 48.6 at 100% coverage. It shows much higher benefit to cost ratio than those of the other two vaccination policies. 4. Both net benefits of vaccination at one (American style) and that of vaccinations at one and fifteen (Swedish style) range from about 17.0 billion to 17.8 billion won, those were larger than that of vaccinations of female children at fifteen (Birtish style, about 16.0 billion). 5. In marginal cost-benefit analysis of only additional program of revaccination, the benefit to cost ratios were 3.6 (80% coverage rate) or 0.6 (100% coverage rate). It implies that additional program was less efficient or inefficient. 6. In sensitivity analysis with different discount rates(4% or 7%) and different incidence rates of congenital rubella syndrome (10 or 100 per 100,000 live births), the benefit to cost ratios has fluctuated in wide range. However, all the ratios of vaccination of female children at fifteen were higher than those of the others. Even under the most conservative assumption, the benefit to cost ratios of all the rubella vaccination policies were higher than 3.3. In conclusion, all the rubella vaccination policies found to be cost-effective and particularly the vaccination of female children at fifteen was strongly recommended.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.29-34
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• 2015

Citrullinemia type1 is an autosomal recessive disorder of the urea cycle characterized by neonatal or late onset of hyperammonemia caused by a deficiency of the enzyme argininosuccinate synthetase (ASS). An ASS1 deficiency demonstrates fatal clinical manifestations that are characterized by the neonatal metabolic coma and early death when untreated. It causes a broad spectrum of effects, ranging from a mild disorder to a severe mental retardation, epilepsy, neurologic deficits. An acute neonatal form is the most common. Infants are normal at birth followed by an acute illness characterized by vomiting, lethargy, seizures and coma. These medical problems are life-threatening in many cases. A later onset form is less frequent and may be milder than the neonatal form. This later-onset form is associated with severe headaches, visual dysfunction, motor dysfunction, and lack of energy. Citrullinemia type1 is caused by mutations in the ASS1 gene located on chromosome 9q34.1 that encodes argininosuccinate synthetase, the third enzyme of the urea cycle catalyzing the formation of argininosuccinic acid from citrulline and aspartic acid. The enzyme is distributed in tissues including liver and fibroblasts. This mutation leads to hyperammonemia, arginine deficiency and elevated citrulline level. In the urea cycle, argininosuccinate synthetase catalyses the conversion of citrulline and aspartate to argininosuccinate.. Here, we describe a female newborn patient with lethargy, rigidity and hyperammonemia who was diagnosed as citrullinemia type1 with a c.[421-2A>G], c.[1128-6_1188dup] mutation.