• Journal of Genetic Medicine
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• v.14 no.2
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• pp.56-61
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• 2017

Purpose: Neurofibromatosis type 2 (NF2) is characterized by multiple tumors, including vestibular schwannoma (VS) and others affecting cranial and peripheral nerves. NF2 is caused by mutation of the NF2 gene. The mutation spectrum of NF2 has not been characterized in Korean patients. In the current study, the clinical and genetic characteristics of Korean NF2 patients were analyzed. Materials and Methods: Twenty-five unrelated Korean families were enrolled according to the Manchester criteria. Genetic analysis was performed by direct sequencing and multiplex ligation-dependent probe amplification methods using genomic DNA from peripheral lymphocytes or tumor tissues. Results: All patients had bilateral/unilateral VS and/or other cranial and peripheral nerve tumors. Two patients were familial cases and the other 24 patients were sporadic. Germline NF2 mutations were detected in peripheral lymphocytes from both familial cases, but only in 26.1% of the 23 sporadic families. Somatic mutations were also found in tumor tissues from two of the sporadic families. These somatic mutations were not found in peripheral lymphocytes. A total of 10 different mutations including 2 novel mutations were found in 40.0% of studied families. Five mutations (50.0%) were located in exon 6 of NF2, the FERM domain coding region. Conclusion: Family history was an important factor in identifying germline NF2 mutations. Further study is required to investigate whether exon 6 is a mutation hotspot in Korean NF2 patients and its correlation to phenotypic severity.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.15 no.2
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• pp.143-151
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• 2004

Objectives : Child and adolescent onset obsessive compulsive disorder(C-OCD) is known to be associated with poor drug response, high comorbid rate and strong genetic tendencies. Till now studies for C-OCD have been very rare in Korea. We conducted this study to investigate the informations about clinical features, familial psychiatric loading, treatment profiles and course of server C-OCD from the retrospective analysis of inpatient data of Seoul National University Children's Hospital. Method : Retrospective chart review and data analysis was performed. Twenty(male 16 : female 4) patients with final C-OCD diagnosis by DSM-IV at discharge from 1994 to 2002 were found and their medical chart, psychological data, family interview data and nursing reports were collected and analyzed. Results : 1) The sex ratio of C-OCD was male dominant(4:1). 2) Phenomenological, most common obsession was pathologic doubt, contamination fear, followed by aggressive obsession, need for symmetry, sexual obsession, most common compulsion was checking and washing, followed by breathing, movement, symmetry, repetitive asking, hoarding, mental compulsion. 3) Most common comorbid diagnosis was depression. Other axis-I diagnosis associated OCD were anxiety disorder, tic disorder, conduct and oppositional defiant disorder and psychosis. 4) Regarding psychiatric familial loadings, 17 patients(85%) had relatives with psychiatric disorders, OC-spectrum disorders(OCD or OCPD) were found in 9 patients(45%). 5) The majority of patients(75%) have received SSRI and antipsychotics treatment. The response rate above 'moderate improved" by CGI was 75%. 6) During follow-up period in outpatient clinic, five patients(25%) showed continuous complete remission, 10 patients (50%) did residual symptoms with chronic course. Conclusion : This seems to be the first systemic investigation of severe pediatric OCD patients in Korea. The children & adolescents with severe OCD in inpatient-setting showed the high comorbid rate, familial psychiatric loading, and combined pharmacotherapy with antipsychotics, As for symptoms, high rate of aggressive-sexual obsession and atypical compulsions like breathing and moving was reported in this study. Severe pediatric OCD patients, however, responded well to the combined SSRI and antipsychotics regimen.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.10 no.1
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• pp.91-99
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• 1999

Objects：It is difficult to differentiate between attention deficit hyperactivity disorder(ADHD) and mania because of similar symptoms and atypical symptoms of mania in children and adolescents. The purpose of this study is to identify the characteristics and to clarify the relationship by comparing the clinical features and comorbidities of ADHD and manic patients. Methods：The subjects consisted of 35 patients with ADHD and 19 manic patients. To Compare the characteristic symptoms between the two disorders, we selected 29 patients with ADHD and 14 patients with manic disorders. 6 ADHD patients who had manic disorders as comorbid disorder, and 5 manic patients who had ADHD as comorbid disorders were manic disorders were excluded. Results：1) There were significant differences in ages of onset and state anxiety scale scores, birth weights, numbers of perinatal problem, gestational ages, school behavioral problems between ADHD patients and manic patients(p<0.01). 2) There were significant differences in loses things(p<0.05) of ADHD-symptoms and grandiosity(p<0.01), decrease in sleep(p<0.05), delusions(p<0.01), hallucinations(p<0.05) of mania-symptoms between ADHD patients and manic patients. 3) The comorbid disorders of ADHD patients are significantly high(p<.05) than that of manic patients in major depression. 4) The familial loading of manic patients are significantly high(p<.05) than that of ADHD patients in mood disorder. Conclusions：The above results suggest that ADHD and mania are different disorders, considering the significant differences of clinical features and characteristics, familial loadings of the two disorders.

• Clinical and Experimental Pediatrics
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• v.51 no.9
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• pp.911-921
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• 2008

Learning disabilities (LD) are heterogeneous group of disorders with evidences of genetic or familial trait, intrinsic to the individual and presume to be due to central nervous dysfunction. Learning disabilities and attention deficit hyperactivity disorder (ADHD) are the two of the most common disorders in the population of school-age children. Typically academic achievements in children with learning disabilities are significantly lower than expected by their normal or above normal range of IQ. Although academic and cognitive deficits are hallmarks of children with LD, those children are also at risk for a broad range of behavioral and emotional problems. Almost all cases meet criteria for at least one additional diagnosis such as ADHD, developmental coordination disorder, depression, anxiety, obsessive compulsive disorder, tic disorder, among which ADHD is particularly predominant. Because of the response to the therapeutic intervention program is promising and positive when applied early, it is critical to recognize patients as early as possible. Pediatricians often are the first to hear from parents worried about a childs academic progress. It is not the responsibility of pediatrician to make a diagnosis, referring children for a diagnostic evaluation of LD is a reasonable first step. Pediatricians can make early referral of suspicious children by asking some serial short questions about basic and processing skills. With a basic knowledge about the clinical characteristics, diagnostic and therapeutic procedures of LD, pediatricians also can provide primary counseling and education for parents at their outpatient clinical settings.

• Annals of Clinical Neurophysiology
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• v.8 no.1
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• pp.23-28
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• 2006

Background: central core disease is one of the non-progressive benign congenital myopathies characterized by the presence of cores in muscle fibers, which was originally described by Shy and Magee (1956). We describe clinical charcteristics of central core disease in a Korean family manifested by autosomal dominant pattern through three generations. Methods: Clinical, serologic, and electrophysiologic profiles were evaluated in eleven members among 22 family members through three generations. Results: Six family members were symptomatic and five were non-symptomatic. Instead of proximal muscle weakness, musculoskeletal manifestations including non-specific joint pain and stiff sense were the most frequent symptoms. Muscle biopsy performed in two symptomatic patients revealed that type I fiber showed central halo, which is charactreristics of central core disease. No remarkable findings were present in serologic study including CPK level and electromyographic findings suggesting myopathic pattern were only present in two patients among 11 symptomatic group. Conclusions: In evaluating non-specific musculoskeletal complaints from the familial members showing genetic trait, central core disease should be considered to one of the possible diagnosis.

• Journal of Family Resource Management and Policy Review
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• v.13 no.1
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• pp.61-81
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• 2009

The purpose of this study was to investigate the policy demands of the family sector for work-family balance, with a focus on the child care and household labor provisions. For empirical analysis, data were collected from 197 dual-income families with at least one young child under age 10 in the metropolitan area via self-administered questionnaires. The major findings of this study were as follows. First, child care provisions for working mothers and fathers were insufficient and unfair, and the ratio of child care provisions offered by familial child care network was high. The characteristics of child care provisions for working parents were associated with family structure, working conditions, and demographic variables. Second, household labor provisions for working mothers and fathers were also insufficient and unfair, and the ratio of socialization was high. Third, the level of family satisfaction varied by the level of child care and household labor provisions, respectively, controlling family structure, working conditions, and demographic variables. The empirical results of the study provided policy implications for work-family balance.

• Molecules and Cells
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• v.43 no.2
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• pp.145-152
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• 2020

RUNX1 plays an important role in the regulation of normal hematopoiesis. RUNX1 mutations are frequently found and have been intensively studied in hematological malignancies. Germline mutations in RUNX1 cause familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML). Somatic mutations of RUNX1 are observed in various types of hematological malignancies, such as AML, acute lymphoblastic leukemia (ALL), myelodysplastic syndromes (MDS), myeloproliferative neoplasm (MPN), chronic myelomonocytic leukemia (CMML), and congenital bone marrow failure (CBMF). Here, we systematically review the clinical and molecular characteristics of RUNX1 mutations, the mechanisms of pathogenesis caused by RUNX1 mutations, and potential therapeutic strategies to target RUNX1-mutated cases of hematological malignancies.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.23 no.6
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• pp.558-566
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• 2020

Purpose: Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic autosomal recessive disease caused by mutations in ATP8B1, ABCB11 or ABCB4. Mutational analysis of these genes is a reliable approach to identify the disorder. Methods: We collected and analyzed relevant data related to clinical diagnosis, biological investigation, and molecular determination in nine children carrying these gene mutations, who were from unrelated families in South China. Results: Of the nine patients (five males, four females) with PFIC, one case of PFIC1, four cases of PFIC2, and four cases of PFIC3 were diagnosed. Except in patient no. 8, jaundice and severe pruritus were the major clinical signs in all forms. γ-glutamyl transpeptidase was low in patients with PFIC1/PFIC2, and remained mildly elevated in patients with PFIC3. We identified 15 different mutations, including nine novel mutations (p.R470HfsX8, p.Q794X and p.I1170T of ABCB11 gene mutations, p.G319R, p.A1047P, p.G1074R, p.T830NfsX11, p.A1047PfsX8 and p.N1048TfsX of ABCB4 gene mutations) and six known mutations (p.G446R and p.F529del of ATP8B1 gene mutations, p.A588V, p.G1004D and p.R1057X of ABCB11 gene mutations, p.P479L of ABCB4 gene mutations). The results showed that compared with other regions, these three types of PFIC genes had different mutational spectrum in China. Conclusion: The study expands the genotypic spectrum of PFIC. We identified nine novel mutations of PFIC and our findings could help in the diagnosis and treatment of this disease.

• Journal of Nutrition and Health
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• v.38 no.2
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• pp.125-143
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• 2005

The purposes of this study were to investigate the characteristics of lifestyle and dietary habits of the colorectal cancer patients in Daegu and Kyungpook areas and to collect the data useful for nutrition education for the prevention of colorectal cancer in this community. The case subjects of the study were 123 patients diagnosed recently as colorectal cancer at Kyungpook National University Hospital. The control subjects were 182 persons who did not have any gastrointestinal diseases, including the patients from the department of orthopedic surgery and healthy volunteers. The survey covering general characteristics, life style, dietary habits, eating behaviors, and food intake frequency was administered by individual interviews using questionnaires. The results of the study suggest that high BMI, daily life stress, pessimistic personality, lack of physical activities, and familial cancer history might be the possible risk factors for the incidence of colorectal cancer. Dietary factors suspected as risk factors for colorectal cancer in the present study included strong preferences to meats, salty and fatty taste foods, low intake of water, alcohol drinking, smoking, coffee intake and irregular eating habits. A high consumption of seaweeds, green-yellow vegetables, light-colored vegetables, and green tea was suggested as a preventive factor for colorectal cancer. It is recommended to conduct more extensive and systematic surveys in the near future to reconfirm the risk factors of colorectal cancer in consideration of the characteristic food culture in this community. The results of the present study may be applied to nutritional education for the prevention of colorectal cancer for the local residents. (Korean J Nutrition 38(2): 125～143, 2005)

• Journal of the Korea Academia-Industrial cooperation Society
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• v.17 no.8
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• pp.84-93
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• 2016

This study was conducted to determine family factors related to obesity of high school students. A descriptive correlational study was conducted with 384 high school students in I metropolitan city. Data were collected from February to April of 2015 using self-report structured questionnaires. Questionnaires included weight, height, individual characteristics of subjects and their familial characteristics. Collected data were analyzed by multiple logistic regression. Logistic regression analysis revealed that male gender (aOR = 4.37; 95% CI [1.26, 15.16]), having a non-regular paternal job (aOR = 3.10; 95% CI [1.15, 8.40]), and not being in a two parent family (aOR = 3.52; 95% CI [1.29, 9.61]) were statistically significant contributors to obesity. These results indicate that it is necessary to improve social awareness regarding the obesity risk of male adolescents. Health care providers should recognize the importance of family factors such as parental socioeconomic status and family structures.