• Journal of Genetic Medicine
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• v.11 no.1
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• pp.36-39
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• 2014

Chromosome 3 (3p) deletion syndrome is a rare genomic disorder caused by a deletion at the terminal end of the short arm of chromosome 3. The primary characteristics of the syndrome are delayed development, dysmorphic features, and several other congenital anomalies. Here, we describe the case of a 2-year-old Korean girl with typical features of 3p deletion syndrome, including dysmorphic facial features, low birth weight, developmental delay, growth and cognitive retardation, and congenital heart disease. This case represents the first report of 3p deletion syndrome in Korea. Although phenotypes can be variable among patients, a clinically recognizable pattern has been described for this genetic defect, and our report helps to identify other cases with 3p deletion syndrome from a clinical and genetic perspective.

• Journal of The Korean Dental Society of Anesthesiology
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• v.7 no.2
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• pp.135-138
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• 2007

Hallervorden-Spatz disease (HSD) is a rare autosomal recessive disorder associated with excessive iron deposition in the basal ganglia. In general, HSD is characterized by onset in first two decade of life and by the presence of extra-pyramidal dysfunction including dystonia, rigidity, choreoathetosis. Other associated features include gait and posture disturbance, intellectual decline, seizure, tremor, dysarthria. These signs and symptoms are progressive. MRI is often demonstrated hypodensity in the basal ganglia which is probably suggestive of accumulation of iron. There is no specific treatment for HSD and 45% of patients die before reaching the age of 20 years. The managements directed at specific symptoms are often helpful. Especially, some surgical procedures like pallidotomy and gastrostomy are performed under general anesthesia. There is special need for careful management because of numerous anesthetic challenges like difficulty in cooperation, life-threatening airway obstruction and possibility of aspiration. We report a successful anesthetic management in a patient with HSD for dental procedures.

• Journal of The Korean Dental Society of Anesthesiology
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• v.11 no.1
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• pp.51-54
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• 2011

Wolff-Hirschorn syndrome is a condition that is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. A 9-year-old girl was brought to the clinic with a chief complaint of dental examination. The child was diagnosed as WHS at Samsung medical center. The child was under Sodium valproate, Atrovastatin medication for epilepsy, hyperlipidemia and had a history of heart surgery. So prophylactic antibiotics were recommended. The child was mentally retarded and had seizure so it was difficult to manage her behavior effectively. Thus dental treatment was carried out under general anesthesia. For prompt sedation induction we used 8% sevoflurane shortly. This report presents the case of a 9-year-old girl with WHS, who has received treatment for extensive caries under general anesthesia.

• Journal of Genetic Medicine
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• v.15 no.2
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• pp.110-114
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• 2018

Ataxia-telangiectasia (AT; OMIM 208900) is a rare autosomal recessive inherited progressive neurodegenerative disorder, with onset in early childhood. AT is caused by homozygous or compound heterozygous mutations in ATM (OMIM 607585) on chromosome 11q22. The average prevalence of the disease is estimated at 1 of 100,000 children worldwide. The prevalence of AT in the Republic of Korea is suggested to be extremely low, with only a few cases genetically confirmed thus far. Herein, we report a 5-year-old Korean boy with clinical features such as progressive gait and truncal ataxia, both ankle spasticity, dysarthria, and mild intellectual disability. The patient was identified as a compound heterozygote with two novel genetic variants: a paternally derived c.5288_5289insGA p.(Tyr1763*) nonsense variant and a maternally derived c.8363A>C p.(His2788Pro) missense variant, as revealed by next-generation sequencing and confirmed by Sanger sequencing. Based on claims data from the Health Insurance Review and Assessment Service Republic of Korea, we calculated the prevalence of AT in the Republic of Korea to be about 0.9 per million individuals, which is similar to the worldwide average. Therefore, we suggest that multi-gene panel sequencing including ATM should be considered early diagnosis.

• The Journal of Pediatrics of Korean Medicine
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• v.33 no.1
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• pp.34-45
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• 2019

Objectives The purpose of this study is to highlight recent gut-microbiota studies and to encourage gut-microbiota-related researches in Pediatric science of Korean Medicine. Methods We searched gut microbiota related studies and patents via the PubMed database of the US National Institutes of Health (NIH) and the PatentScope database of the UN World Intellectual Property Organization (WIPO) to see current trends of gut microbiota studies. Results All searched research and review articles in gut-microbiota studies were analyzed and presented as two charts, showing the recent trends of gut microbiota research. We summarized and discussed the significance of the selected fifty-six articles. Also, we listed reported gut-microbiota-derived small metabolites, impacting on human health and diseases. Conclusions This study emphasizes the critical roles of gut-microbiota and their-derived small metabolites in the human physiology and pathology. We know and agree that many natural compounds in Korean Medicine could be converted into small metabolites by gut microbiota in our body. Thus, it is important to encourage physicians and researchers of gut microbiota in the arena of Pediatric Korean Medicine. We believe that researchers will find a lot of unknown metabolites produced by gut microbiota from natural compounds in Korean Medicine.

• Journal of Preventive Medicine and Public Health
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• v.52 no.3
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• pp.200-204
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• 2019

On September 12, 2018, President Jae-In Moon announced the Comprehensive Plan for Lifelong Care for People with Developmental Disabilities, with representatives from the associated government branches (Ministry of Health and Welfare, Ministry of Education, and Ministry of Employment and Labor) in attendance. The goals of this plan are to provide health, medical, rehabilitative, special education, and social welfare services according to the life-stages of the affected individuals; to reduce parental pressure; to promote social interventions; and to enhance community-level participation in order to create a 'welfare society in harmony.' However, in order for the plan to succeed, additional efforts must be made in the following areas. First, an epidemiological survey is needed to understand the scale, prevalence, and incidence of developmental disabilities and to establish an evidence base to support policy development. Second, accurate definitions of developmental disabilities must be established in order to avoid policy discrimination based on impairment type and age. Third, personal evaluations to assess disabled individuals' unmet needs and customized service designs to deliver those needs are required. Fourth, the plan must fulfill the goals of accessibility and fairness that the government intends to provide. Fifth, the government should consider an integrated financial support system and to propose a detailed plan for monetary distributions. Finally, an integrated system that links health, medical, employment, educational, and welfare services must be constructed.

• Journal of Genetic Medicine
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• v.17 no.2
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• pp.92-96
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• 2020

Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS) is an autosomal-dominant, extremely rare neurodevelopmental disorder caused by the heterozygous EBF3 gene mutation. EBF3 is located on chromosome 10q26.3 and acts as a transcription factor that regulates neurogenesis and differentiation. This syndrome is characterized by dysmorphism, cerebellar hypoplasia, urogenital anomaly, hypotonia, ataxia, intellectual deficit, and speech delay. The current report describes a 3-year-old Korean male carrying a de novo EBF3 mutation, c.589A>G (p.Asn197Asp), which was identified by whole exome sequencing. He manifested facial dysmorphism, hypotonia, strabismus, vermis hypoplasia, and urogenital anomalies, including vesicoureteral reflux, cryptorchidism, and areflexic bladder. This is the first report of a case of HADDS cause by an EBF3 mutation in the Korean population.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.8 no.2
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• pp.163-174
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• 1997

This study was to know the influence of familial environment and moral development on conduct disorder. Subjects were composed of 47 male and female patients with conduct disorder(patients group), 113 general male and female students(normal group), and 173 juvenile prisoners(JP group). The Korean Form of the Family Environment Scale(FES) was used to assess the family environment of the subjects and the Korean Defining Issues Test(DIT) was used to assess the moral development. Conduct disorder was diagnosed with the DSM-III-R criteria for conduct disorder. The influence of familial environment and moral development on conduct disorder was analyzed with ANOVA and the differences among groups were verified with Scheffe test. There was no difference in the socioeconomic status and the physical abuse by the parents among the three groups. But the rates of divorce or separation of the parents were significantly highest in the JP group and higher in the patients group than in the normal group. Especially the subjects of the JP group experienced the divorce or separation of their parents during the preschool or the elementary school periods. In regard to the family environment, there was no difference among the three groups in the Subscales of Expressiveness, Independence, Intellectual-cultural orientation, Moral-religious emphasis, Organization, and Control. ‘Cohesion Subscale’ was significantly higher in the normal group than in the JP group. ‘Conflict Subscale’ was significantly higher in the JP and patients groups than in the normal group. ‘Achievement orientation Subscale’ was significantly lower in the JP group than in the patients and normal groups. ‘Activerecreational orientation’ was significantly lower in the normal group than in the JP and patients groups. In gegard to the moral developmental stage, the lower moral developmental step was higher in the JP and patients groups than in the normal group. The higher steps were significantly higher in the normal group than in the JP group. There was no significant correlation between the degree of ‘Moral-religious emphasis Subscale’ and the moral development. The clinical implication and limitation of present study were listed and discussed.

• Journal of Korea Multimedia Society
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• v.8 no.9
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• pp.1258-1268
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• 2005

While the concept of Home Network is laying by and its interests are increasing by means of digitalizing of the information communication infrastructure, many efforts are in progress toward convenient lives. Moreover, as information household appliances which have a junction of connecting to the network are appearing over the past a few years, the demands against intellectual Home Services are increasing. In this paper, by being based upon Multimedia which is an essential factor for developing of various application services on ubiquitous computing environments, we suggest a simplified application model that could apply the information to the automated processing system after studying user's behavior patterns using authentication and access control for identity certification of users. In addition, we compared captured video images in the fixed range by pixel unit through some time and checked disorder of them. And that made safe of user certification as adopting self-developed certification method which was used 'Hash' algorism through salt function of 12 byte. In order to show the usefulness of this proposed model, we did some testing by emulator for control of information after construction for Intellectual Multimedia Server, which ubiquitous network is available on as a scheme so as to check out developed applications. According to experimental results, it is very reasonable to believe that we could extend various multimedia applications in our daily lives.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.18 no.1
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• pp.10-15
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• 2007

Probably the three most important components to a comprehensive evaluation of patients with attention-deficit hyperactivity disorder (ADHD) are the clinical interview, the medical examination, and the completion and scoring or behavior rating scales. Teachers and other school personnel are often the first to recognize that a child or adolescent might have ADHD, and often play an important role in the help-seeking/referral process. A diagnostic evaluation for ADHD should include questions about ADHD symptoms, other problems including alcohol and drug use, family history of ADHD, prior evaluation and treatment for ADHD. Screening interview or rating scales as well as interviews should be used. When it is feasible, clinicians may wish to supplement these components of the evaluation with objective assessments of the ADHD symptoms, such as psychological tests. These tests are not essential to reaching a diagnosis, however, or to treatment planning, but they may yield further information about the presence and severity of cognitive impairments that could be associated with some cases of ADHD. Screening for intellectual ability and academic achievement skills is also important in determining the presence of comorbid developmental delay or loaming disabilities. The number and type of symptoms required for a diagnosis of ADHD vary depending on the specific subtype. To receive a diagnosis of ADHD, the person must be experiencing significant distress or impairment in daily functioning, and must not meet criteria for other mental disorders which might better account for the observed symptoms such as mental retardation, autism or other pervasive developmental disorders, mood disorders, anxiety disorders. This report aims to suggest a practice guideline of assessment and diagnosis for children and adolescents with ADHD in Korea.