• Clinical and Experimental Pediatrics
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• v.51 no.3
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• pp.315-322
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• 2008

Purpose : Prader-Willi syndrome (PWS) is a complex genetic disorder, caused by the deletion of the paternally derived 15q11-13 region or the maternal uniparental disomy of chromosome 15 (mUPD(15)). In this study, we compared phenotypic differences between those patients whose disease was caused by microdeletion and those caused by mUPD(15). In addition, a comparison of the efficacy of growth hormone (GH) therapy between these two PWS genotypes was analyzed. Methods : Fifty-three patients were diagnosed as having PWS based on molecular and cytogenetic analyses and clinical features. Data that included maternal age, birth weight, a feeding problem in the neonatal period, cryptorchidism, developmental delay or mental retardation, short stature, hypopigmentation, changes in height, weight, and body mass indexes (BMI) before and after GH treatment were obtained by a retrospective review of medical records. The data from the patients with microdeletion were compared with those from the patients with mUPD(15). Results : Of the 53 patients with genetically confirmed PWS, 39 cases had microdeletion and 14 mUPD(15). Maternal ages were significantly higher in the mUPD(15) group, and hypopigmentation and a feeding problem in the neonatal period were more frequent in the microdeletion group. Growth hormone was administered to 20 patients [14 with microdeletion, 6 with mUPD(15)]. There were no differences between the two groups in height velocity, weight and height SDS, and BMI after GH therapy. Conclusion : Phenotype and genotype correlations were observed in Korean PWS patients, such as more advanced maternal ages in the mUPD(15) group and more feeding problems and hypopigmentations in the microdeletion group. Further long-term prospective studies are needed to correlate other aspects of the phenotypes.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.8 no.2
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• pp.232-241
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• 1997

The psychological problems following the experiences of school-violence could be more important than the physical problems. Victims could suffer from fear, depression, anger, lowered self-esteem, suicidal thought, and personality changes. To study the risk factors for school violence and the psychiatric problems after the experiences to school-violence provide us important informations to prevent and solve the problems of school violence. We examined clinical characteristics and psychosocial backgrounds of 13 adolescents who visited the psychiatric clinic after exposures to school violence from September, 1996 to May, 1997. The clinical data included intensity, motivations, durations, and methods of violence, psychiatric symptoms following exposure, findings of psychological test, and treatment course. The socioeconomic data included developmental characteristics of subjects, family characteristics, school life, and peer relationships. Of the 13 adolescents who experienced exposure to violence, 8 have experienced chronic psychiatric disturbances, 5 experienced transient psychiatric symptoms such as anxiety, depression, suicidal attempt who eventually returned to home and school life. Of the 8 adolescents who experienced chronic psychiatric disturbances, 4 experienced PTSD and depression lasting 3-6 months more, otherwise 4 showed converted features, such as aggressive behavioral disorder or perpetrator by strong compensatory effects after psychological shock. The subjects who have experienced chronic psychiatric disturbance have clinical characteristics such as physical or emotional abuse, physical illness or handicap, defects of ego functionings, and lack of family support. In summary, victims by school-violence manifested serious psychiatric disturbances, and they had clinically significant risk factors and some of them became perpetrators of school-violence.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.9 no.1
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• pp.98-104
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• 1998

A 12-year-old girl with a 6 year history of childhood-onset schizophrenia required 2 hospitalizations and long-term clozapine trial due to inadequate responses to combinations of typical neuroleptics and traditional treatments of schizophrenic disorder. On admission, she had continuous auditory and visual hallucinations, persecutory delusion, emotional instability, regression of behaviors including temper tantrums as well as specific developmental delays in learning, language, and motor coordination. The clozapine trial significantly reduced most of the positive symptoms, and facilitated in successful discharge from the hospital. During the 4 year clozapine treatment, no significant adverse reactions were noted, and she returned to a structured school setting with minimal degrees of schizophrenic symptoms. From this clinical experience, we suggest that clozapine might be safe and effective in treating treatment-refractory schizophrenic children.

• Clinical and Experimental Pediatrics
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• v.52 no.3
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• pp.289-294
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• 2009

Purpose : To assess the usefulness of magnetic resonance imaging (MRI), karyotyping, brainstem auditory evoked potential (BAEP), electroencephalogram (EEG), tandem mass screening test, and newborn metabolic screening test in children with language delay for diagnosing underlying diseases. Methods : From January 2000 to June 2007, a retrospective chart review was performed for 122 children with language delay who visited the Child Neurology Clinic at Yeungnam University Hospital and who underwent neuropsychologic tests and other diagnostic evaluations for underlying diseases. They were grouped into phenomenological diagnostic categories, and test results were analyzed according to the underlying diseases. Results : Of 122 patients, 47 (38.5%) had mental retardation, 40 (32.8%) had developmental language disorders, 23 (18.9 %) had borderline IQ, and 12 (9.8%) had autism spectrum disorder. In 26 (21.3%) cases, the causes or relevant clinical findings to explain language delay were found. Eight (10.4%) of 77 MRIs, 6 (8.0%) of 75 EEGs, and 4 (5%) of 80 BAEPs showed abnormal results. Results directly attributed to diagnosing underlying diseases were 2 hearing defects in BAEPs and 1 bilateral perisylvian cortical dysplasia in MRIs. No abnormal results were found in karyotyping, tandem mass screening tests, and new-born screening tests. Conclusion : Commonly used tests to diagnose the cause of language delay are not very effective and should only be used selectively, according to patient characteristics. However, despite the low diagnostic yields from these tests, because many patients show abnormal results, these tests are useful when conducted in complete evaluation.

• Clinical and Experimental Pediatrics
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• v.45 no.10
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• pp.1263-1272
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• 2002

Purpose : Rett syndrome(RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000-15,000 female births worldwide. It was initially described by Andreas Rett in 1966. RTT involves developmental regression characterized stereotypic hand movements, tremors, gait apraxia, seizures, deceleration of head growth after the age of 6-18 months. The disease-causing gene was identified as MECP2 on chromosome Xq28. We carried out mutational analysis of MECP2 genes in RTT patients. Methods : Whole blood(5 cc) of 34 sporadic RTT patients was collected in EDTA-anticoagulated tubes. Genomic DNA was extracted from peripheral blood using the E.Z.N.A. blood DNA kit. Four exons of the MECP2 gene were amplified by PCR in 34 Korean with RTT. We carried out PCR divided the exon three into two parts and the exon four into five parts. Primer sequences designed by Amir et al. in 1999 were almost used(AF030876). Sequencing primers used were the same as PCR. DNA sequencing reactions were performed using an ABI 377 DNA sequencer and ABI PRISM dye terminator cycle sequencing reaction kit(Perkin-elmer). The results were compared with the normal DNA sequence(X99686). To confirm the change of sequence on novel mutations, RFLP analysis was performed. Results : The MECP2 mutations were detected in 23(67.6%) of the 34 patients. The mutations consisted of 12 different types including nine missense and three nonsense mutations. Of these, three (L100V, G161E and T311M) mutations were newly identified. Most of the mutations discovered are located within MBD(39.1%) and TRD(39.1%). In this study, three(T158M, R270X, R306C) mutations were identified high frequency. Conclusion : MECP2 gene was also an important cause of Korean RTT patients. MECP2 gene study is an important tool for diagnosis of Korean RTT patients.

• Journal of Dental Rehabilitation and Applied Science
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• v.31 no.2
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• pp.86-95
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• 2015

Purpose: The aim of the study was to evaluate the subjective symptoms and clinical signs through the TMD-questionnaire, clinical examination and radiography against the many instrumental performers and to investigate the association between playing instruments and TMDs. Materials and Methods: A total of 803 instrumental performers received TMD-related questionnaire and evaluations of prevalence and disease distribution were performed. Among those who reported at least one symptom of TMD, 70 volunteers visited in clinic then received clinical examination and radiography for diagnosis and evaluations of prevalence and disease distribution were performed. 70 subjects were divided into three groups as woodwind, brass wind, string. Comparative analysis of disease distribution was performed. Results: Among 803 instrumental performers, 610 people (75.97%) were reported to one or more symptoms of TMD. The most frequent symptom was click (29.68%).70 subjects underwent a clinical examination and radiography survey results, the most frequent symptom was a click (29.75%). Most commonly diagnosed disease was a myofacial pain (30.53%).Comparison of the three groups, a significant difference was not observed in the clinical sign. But among subject symptom, muscle pains howed significant differences in accordance with the Group (P = 0.024). During the 70 people who underwent clinical examination, 66 people (94.3%) showed moderate to severe attrition, mild to severe tongue ridging, mild to severe cheek ridging assigns of parafunction. Conclusion: Instrumental performers showed a high prevalence of TMD and the most of the musicians with temporomandibular disorder had bruxism or clenching habits.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.35-42
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• 2018

Purpose: To follow up Korean patients with metabolic and endocrine disorders ascertained by Korea Genetics Research Center, and assess the long-term effectiveness of extended newborn screening program in Korea. Methods: From January 2000 to December 2017, tandem mass spectrometry and fluoroimmunoassay were employed in extended newborn screening (NBS). The NBS program obtained dried blood spots from 283,626 babies, 48 hours after birth, and screened for galactosemia, congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), and 50 preventable inborn errors of amino acid, fatty acid, and organic acid metabolism. Results: 28 cases of amino acid disorders, 75 cases of organic acid disorders, 27 cases of fatty acid disorders, 51 cases of urea cycle disorders, 127 cases of CH, 14 cases of CAH, and 15 cases of galactosemia were ascertained through NBS and subsequent confirmatory laboratory tests. Patients with amino acid metabolic disorders, galactosemia, CH, or CAH were more likely to have a better long-term outcome if detected early. Early management of MSUD led to much better outcome in over 90%. Despite early intervention, 32% of other organic acidemia cases still resulted in developmental delay and neurological problems. Fatty acid disorders showed varied results; those with EMA and MCAD had a good outcome, but those with VLCAD had serious neurological problems and considerably higher mortality. 75% with UCD experienced serious neurological complications and higher mortality. Conclusion: The nation-wide NBS program must be accompanied by comprehensive long-term management and physician and family education of inborn errors of metabolism for a better outcome.

• Development and Reproduction
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• v.12 no.3
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• pp.289-296
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• 2008

BPES (Blepharophimosis/Ptosis/Epicanthus inversus Syndrome) is an autosomal dominant disorder caused by mutations in FOXL2. Affected individuals have premature ovarian failure (POF) in addition to small palpebral fissures, drooping eyelids, and broad nasal bridge. FOXL2 is a member of the forkhead family transcription factors. In FOXL2-deficient ovaries, granulosa cell differentiation dose not progress, leading to arrest of folliculogenesis and oocytes atresia. Using yeast two-hybrid screening of rat ovarian cDNA library with FOXL2 as bait, we found that small ubiquitin-related modifier (SUMO)-conjugating E2 enzyme UBE2I protein interacted with FOXL2 protein. UBE2I also known as UBC9 is an essential protein for processing SUMO modification. Sumoylation is a form of post-translational modification involved in diverse signaling pathways including the regulation of transcriptional activities of many transcriptional factors. In the present study, we confirmed the protein-protein interaction between FOXL2 and UBE2I in human cells, 293T, by in vivo immunoprecipitation. In addition, we generated truncated FOXL2 mutants and identified the region of FOXL2 required for its association with UBE2I using yeast-two hybrid system. Therefore, the identification of UBE2I as an interacting protein of FOXL2 further suggests a presence of novel regulatory mechanism of FOXL2 by sumoylation.