• Clinical and Experimental Pediatrics
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• v.52 no.9
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• pp.991-998
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• 2009

Purpose : Thyroid hormone is essential for development of the brain in early life. Thyroid dysfunction is more common in the first 2-4 postnatal weeks of life in premature infants than in term infants. This study aimed to identify the prevalence and clinical course of thyroid dysfunction in prematurity. Methods : Premature infants admitted to and given neonatal screenings at Dankook University Hospital between April 1999 and March 2008 were included in this study. We retrospectively reviewed medical records and categorized subjects into six groups: normal, hypothyroidism, hyperthyrotropinemia, hypothyroxinemia, delayed onset of hypothyroidism, and delayed onset of hyperthyrotropinemia. Results : Among 599 subjects, 136 (23%) had initially abnormal thyroid function test (TFT); transient hypothyroxinemia was the most frequent condition (118, 20%). In addition, 8 (17%) of 46 subjects with initially normal TFT levels showed delayed onset of hyperthyrotropinemia with or without low free thyroxine ($fT_4$). Thyroxine was prescribed for 10 patients (1.7%) due to low $fT_4$ levels but was discontinued in 9 patients during follow-up. Thyroid scan confirmed ectopic thyroid in one patient. Conclusion : Thyroid dysfunction was frequently seen in premature infants, but most of the conditions were transient. In addition, some infants showed delayed TSH elevation on routine follow-up. Therefore, a recheck of the thyroid function of premature infants at 3-4 weeks is recommended, even if normal thyroid function is initially seen, especially in prematurity of less than 33 weeks of gestational age or birth weight of less than 2,500 grams.

• Journal of the korean academy of Pediatric Dentistry
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• v.28 no.1
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• pp.180-184
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• 2001

Cleidocranial Dysplasia(CCD) is an autosomal dominant human bone disease characterized by abnormal clavicles, patent sutures and fontanelles, and dental anomalies. Among dental anomalies, it is characterized that permanent dentition is severly disturbed due to multiple supernumerary teeth and abnormalities of tooth morphology. A eight-year-old female patient diagnosed as cleidocranial dysplasia visited in our hospital. Upon clinical oral exam, retained deciduous teeth, constriction of dental arch, anterior cross bite, and multiple dental caries were observed. In the dental panoramic radiograph, retained deciduous teeth and multiple supernumerary teeth in the maxilla and the mandible were found. In the cephalometric radiograph, open sutures and wormian bones were seen. In the chest P-A view absence of clavicles was observed. The cleidocranial dysplasia patients have eruption problems in permanent dentition both in regions with and without supernumerary teeth. The severely delayed or arrested eruption of permanent teeth has been ascribed to various factors : 1) The presence of multiple supernumerary teeth, 2) malformed roots with lack of cellular cementum, 3) the jaw bone being too dense, and 4) abnormal resorption of bone and primary teeth. Formation and maturation of primary teeth in cleidocranial dysplasia are normal, whereas the permanent dentition has various anomalies. Therefore, dentists should understand the development of dentition in cleidocranial dysplasia, and treat them in proper time.

• Journal of Digital Convergence
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• v.16 no.2
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• pp.431-440
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• 2018

This study examined the effectiveness of the cognitive activity integration program to delay the progression of the mild demented elderly. The subjects were divided into experimental group and comparative group for 12 cases of mild dementia, and the cognitive activity integration program was conducted for 8 weeks and compared with the MMSE-K, ADL & IADL, CDR and GDS scales. The results show that the effectiveness and continuity of the program are as follows. First, as an implication of practical dimension, integrated program of fusion and complexity is more effective than cognitive activity program of single domain. Second, the cognitive activity integration program must be continuously provided to maintain its effectiveness. Third, the cognitive activity integration program is as important as the practice process. It is necessary to develop and disseminate a cognitive activity integration program that reflects fusion and complex treatment techniques applicable to the elderly with mild dementia by practical suggestion. Policy suggestions are needed to continue the ongoing cognitive activity integration program, to maintain effectiveness, and to delay the progress of dementia.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.2
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• pp.87-92
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• 2015

Mucopolysaccharidosis (MPS) is an inherited disease entity associated with lysosomal enzyme deficiencies. MPS type 2, also known as Hunter syndrome, has a characteristic morphology primarily involving x-l inked recessive defects and iduronate-2-sulfatase gene mutation. The purpose of this case report is to provide important clues to help pediatricians identify Hunter syndrome patients earlier (i.e., before the disease progresses). A 30-month-old boy showed developmental delay and decreased speech ability. Physical examinations revealed a flat nose and extensive Mongolian spots. Brain magnetic resonance images (MRIs) showed bilateral multiple patchy T2 hyperintense lesions in the periventricular and deep white matter, several cyst-like lesions in the body of the corpus callosum, and diffuse brain atrophy, which were in keeping with the diagnosis. Based on these findings, the patient was suspected of having MPS. In the laboratory findings, although the genetic analysis of IDS (Iduronate-2-sulfatase) did not show any pathogenic variant, the enzymatic activity of IDS was not detected. We could confirm the diagnosis of MPS, because other sulfatases, such as ${\alpha}$-L-iduronidase, were detected in the normal range. Early enzymatic replacement therapy is essential and has a relatively good prognosis. Therefore, early diagnosis should be made before organ damage becomes irreversible, and brain MRIs can provide additional diagnostic clues to help distinguish the disorder.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.3
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• pp.147-154
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• 2015

Purpose: 3HB and AcAc are two ketone bodies that can be used as energy source in brain via succinyl-CoA:3-ketoacid CoA transferase (SCOT) and mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase, T2), called ketolysis. In case of malfunction of these enzymes, ketolysis cannot occur fluently causing various clinical manifestations. We want to know the numbers of patients and clinical manifestations of ketolytic defects in Korea. Material: For 67 patients of ketolytic defects out of 2794 patients that have done urine organic acid analysis, we analyzed clinical manifestations and age distribution. The study period was from January 2007 to September 2015. Method: To confirm persistency of ketonuria, repeated and loading organic acid analysis were done at least 1 week period interval. SPSS was used for statistical analysis. Result: Thirty patients in infantile period (2 M-2 Y), 31 patients in childhood period (2 Y-12 Y), 5 patients after adolescent period (>12 Y) and 1 in neonatal period were diagnosed during the study period. The most frequent chief complaint was seizure followed by seizure with developmental delay and developmental delay only. Conclusion: Ketolytic defects were not so rare in Korea. Major clinical manifestations are seizure and developmental delay or mental retardation.

• Journal of Veterinary Clinics
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• v.28 no.3
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• pp.318-322
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• 2011

Three dogs with severe traumatic spinal cord injury (TSCI) due to falling wound were admitted to the Veterinary Medical Center, Chonbuk National University for evaluation of severe pelvic limbs paralysis without deep pain, normal defecation and urination. Based on physical examination, neurological assessment and computed tomogram (CT), the diagnosis was made as subluxation and compressed fracture. All the cases were surgically treated with dorsal laminectomy and a spondylosyndesis using pin and bone cements. For 2 weeks, the dogs didn't show any improvement. Consequently, the dogs were treated with electroacupuncture (EA) and Duhuojisheng-tang (DHJST). All the dogs got back the deep pain and presented wagged tail on 14-35 days after starting EA with DHJST. Especially, two of 3 dogs recovered almost normal ambulation and capacities of urination and defecation. But, one dog failed to regain normal ambulation due to inflammation of operative site which is thought to be caused by the bone cement. From these cases, it was thought that the combination of EA and DHJST mightbe one of the suitable therapies in dogs with no neurological improvement.

• Journal of the korean academy of Pediatric Dentistry
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• v.27 no.3
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• pp.394-399
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• 2000

Odontoma is defined as a benign odontogenic tumor containing enmel, dentin as well as cementum. It has come to mean a growth in which both the epithelial and the mesenchymal cells exhibit complete differentiation. Most authorities accept the view today that the odontoma represents a hamartomatous malformation rather than a true neoplasm. The etiology of odontomas is uncertain but hypothesized to involve local trauma, infection, inheritance or mutant gene. The odontomas often cause various disturbances in the eruption and position of the teeth. The steps in removal of an odontoma in close relation to an adjacent impacted normal tooth should comprise 1) removal of odontoma and 2) exposure of the impacted tooth. Orthodontic therapy may be applied. Before treatment, the necessary space for the impacted tooth should be evaluated. If there is lack of space in the dental arch, orthodontic treatment should be carried out before operation.

• 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.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.11 no.2
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• pp.290-296
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• 2000

Objective：This study aims to investigate the cognitive characteristics of clinically referred children with symptoms of inattention, cach as having ADHD, tic disorder, and emotional disorder. Methods：65 boys(38 with ADHD, 17 with Tic disorder, and 10 with Emotional disorder) were individually assessed using the KEDI-WISC(FIQ, VIQ, PIQ) and T.O.V.A.(errors of omission, errors of commission, reaction time, variability, anticipatory response, multiple response), and the results of those tests were analyzed. Results：There was significant difference among three diagnostic groups of the VIQ of KEDIWISC and the reaction time of T.O.V.A. after the correction of the effect of age difference. Conclusion：The findings suggest that the reaction time of T.O.V.A. might be the useful variable to differentiate the ADHD from other psychiatric disorders and the effect of age and IQ difference should be considered carefully to diagnose in clinical setting.

• 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.