• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.21 no.4
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• pp.271-277
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• 2018

Purpose: Familial Mediterranean fever (FMF) is an auto inflammatory disease characterized by periodic fever, synovitis and serositis. Patients may be admitted to gastroenterology units due to gastrointestinal symptoms. In this study; we aimed to analyze endoscopic findings and diagnostic utility of endoscopic procedure in children with FMF. Methods: Patient with FMF that was performed endoscopy for the gastrointestinal symptoms were included to the study (39 of 164 patients, 53 procedure). A control group was randomly designed as age and gender matched four endoscopic procedures per one endoscopic procedure of patients with FMF (n=212). Results: No different was found between the patients and control group in esophagogastroscopy findings. However, the diagnosis of gastrointestinal pathology was made by esophagogastroscopy in 46.2% patients. Colonoscopic examination revealed that the frequency of inflammatory bowel disease (IBD) was higher in undiagnosed patients compared to both the control group (50.0% vs. 6.9%, p<0.05, odds ratio [OR]:13.4 and 95% confidence inteval [95% CI]: 2.1-84.3) and the patients under colchicine treatment (50.0% vs. 8.3%, p<0.05, OR: 11 and 95% CI: 0.8-147.8). Colonoscopic procedure that was made after the diagnosis was found to provide contribution by 16.7% in determining the etiology of the additional symptoms. Conclusion: Patients with FMF may be admitted to pediatric gastroenterology outpatient clinic prior to diagnosis or during the follow-up period. The frequency of IBD is high in undiagnosed patients with FMF. Endoscopic procedures may be helpful in these patients for the diagnosis accompanying mucosal lesions.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.5
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• pp.2141-2144
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• 2014

Background: Gastric cancer is the second most common cause of cancer death. It has a poor prognosis with only 5-10% of hereditary etiology. If it is diagnosed, it could be helpful for screening the other susceptible members of a family for preventive procedures. Usually it is identified by symptoms such as presence of cancer in different members of family, some special type of pathology such as diffused adenocarcinoma, having younger age and multiple cancer syndromes. Hence, designing a registry program can be a more practical way to screen high risk families for a preventive program. Materials and Methods: Based on the inclusion criteria, a questionnaire was prepared. After pilot on a small number of patients, the actual data was collected from 197 patients and processed in SPSS 16.0. Results: Totally, 11.8% of the patients were younger than 45 years old. Blood type 'A' was dominant and males had a higher risk behavior with higher consumption of unhealthy food. Adenocarcinoma was reported in majority of cases. 21.8% of the patients had the including criteria for familial gastric cancer (FGC). Conclusions: The high percentage of FGC population compared to the other studies have revealed a need to design an infrastructural diagnostic protocol and screening program for patients with FGC, plus preventive program for family members at risk which could be done by a precise survey related to frequency and founder mutations of FGC in a national registry program.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.4
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• pp.1987-1991
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• 2016

Breast cancer has emerged as the most prevalent cancer among women worldwide, including in Indonesia. The contribution of genes associated with high-risk breast-ovarian cancers, BRCA1 and BRCA2, in the Indonesian population is relatively unknown. We have characterized family history of patients with moderate- to high-risk of breast cancer predisposition in 26 unrelated cases from Indonesia for BRCA1/2 mutation analyses using direct sequencing. Known deleterious mutations were not found in either BRCA1 or BRCA2 genes. Seven variants in BRCA2 were documented in 10 of 26 patients (38%). All variants were categorized as unclassified (VUSs). Two synonymous variants, c.3623A>G and c.4035T>C, were found in 5 patients. One variant, c4600T>C, was found in a 38 year old woman with a family history of breast cancer. We have found 4 novel variants in BRCA2 gene including c.6718C>G, c.3281A>G, c.10176C>G, and c4490T>C in 4 unrelated patients, all of them having a positive family history of breast cancer. In accordance to other studies in Asian population, our study showed more frequent variants in BRCA2 compared to BRCA1. Further studies involving larger numbers of hereditary breast cancer patients are required to reveal contribution of BRCA1/2 mutations and/or other predisposing genes among familial breast cancer patients in Indonesia.

• Clinical and Experimental Pediatrics
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• v.52 no.5
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• pp.611-614
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• 2009

Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disease characterized by the production of a wide range of autoantibodies, resulting in tissue damage. Although the susceptibility to SLE has been attributed to complex interactions between genetic and environmental factors, the influence of a genetic predisposition to SLE is supported by observations of familial aggregations. Family studies have found that siblings with an SLE-affected relative have a 20-fold higher risk of developing SLE compared with the general population. Here, we present a rare case of two male siblings with SLE. The clinical, laboratory, and histopathological findings of these individuals showed the characteristic features of SLE. Human leukocyte antigen (HLA) typing revealed that the brothers and their mother shared the common HLA haplotype of DRB1*1501 and DQB1*0602, which is significantly associated with disease susceptibility in both family-based and casecontrol studies. This report provides an opportunity to reveal the role of genetic factors in the development of SLE.

• Korean Parent-Child Health Journal
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• v.4 no.1
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• pp.19-34
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• 2001

The childbearing process is not only a biological phenomenon of a woman who gives birth to a child but also a sociocultural phenomenon which is reflected on her value, belief in the sociocultural context according to social change and acculturation. The familial relation and sociocultural context in the multigravidas are more complex and intermingled than in the primigravidas. The purpose of this ethnographic research study was to explore the experience of identity from the first trimester of pregnancy to the third trimester of pregnancy in the Korean multigravidas and to understand deeply the perspectives of pregnant women reflected on Korean sociocultural values, beliefs, norms and familial culture. The participants of 10 pregnant women in Seoul, Korea were observed for 10 months from January to October 2000 and interviewed in their homes and comfortable place. Data analysis was accomplished 'line by line method' and significant concepts were classified according to themes, categories, and domains. The results of this study were as follows : The participants experienced 4 categorized subjects : understanding the oneself - mother to be, performing the dual role, drifting the emotion, and living disheartened during pregnancy. The participants were showed universality and diversity pattern in the self understanding process. The universal pattern were 'mother to be' showing maturation, life along family and priority on motherhood between being a mother and a woman. The diverse pattern were taking the dual role in working mothers having the higher self actualized value and personal identity rather than maternal identity, drifting emotion in resigned mothers, and living disheartened in mothers who have two daughters and no son. In conclusion, the Korean multigravidas experienced womanhood as well as motherhood through the self understanding process with familial connections during pregnancy. Therefore it is suggested that if the harmony and the balance between a mother and a woman is accomplished, the woman will lead a healthy and high quality of life. Also, this study sought to confirm the sociocultural factors affecting during pregnancy in the perspectives of the women with children. Therefore, the health care providers have to divert their attention from biomedical perspectives to biocultural perspectives integrating bio-psycho-sociocultural aspects of pregnant women in a clinical setting.

• Clinical and Experimental Pediatrics
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• v.50 no.7
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• pp.694-697
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• 2007

Paroxysmal kinesigenic dyskinesia (PKD), previously referred to as movement-provoked seizures, is a rare neurological condition that is characterized by short duration dystonic or choreoathetotic movements precipitated by sudden movement, a change in position or hyperventilation. It can be difficult to distinguish this syndrome from seizures. We reported on three brothers in one family all of whom developed abnormal involuntary dystonic or choreoathetotic movement with a tingling or stiffness sensory aura. Evaluations of the patients included general physical examinations, endoclinologic, metabolic studies, chromosomal analysis, video electroencephalograms and brain MRI imaging. All of these studies were normal except for an arachnoid cyst found in one patient. All symptoms showed excellent response to oxcarbamazepine ($Trileptal^{(R)}$) or carbamazepine. Use of the video electroencephalogram can help differentiate familial PKD from seizures.

• Journal of Chest Surgery
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• v.43 no.1
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• pp.67-72
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• 2010

Ten percent of all myxomas are the familial form. Familial myxomas appear to have autosomal dominant transmission. We experienced two siblings with familial myxomas. A left atrial myxoma was surgically removed in a 21-year-old woman. Six years later, other myxomas were found in the right atrium and the left atrium and these were also surgically removed. Right ventricular and right atrial myxomas were surgically excised in her brother. The two siblings were found to have frame-shift mutations in the PRKAR1A gene (c.537delA; p.Gly180GlufsX26), which is the causative gene for Carney complex. Obtaining the genetic diagnosis makes it possible to prepare more effective therapeutic strategies for these patients and the gene carriers. Complete excision, ruling out multicentricity and proper postoperative follow up are all necessary to avoid recurrence of myxoma.

• Genomics & Informatics
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• v.7 no.2
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• pp.107-110
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• 2009

In Sasang constitutional medicine, both disease susceptibility and drug response are considered to be related to the characteristics of an individual's physiology and psychology: a theory which is central to traditional Korean medicine. Based on such observable characteristics, Sasang constitutional medicine classifies people into four constitutional types. Genetic studies of Sasang constitution would help reveal the inheritance patterns and models of the typological traits and, moreover, help with traditional medical diagnosis and treatment. To investigate the heritable aspect of Sasang constitution, we collected various pedigrees from South Korea. The study population has 101 pedigrees composed of 593 individuals. The determination of the Sasang constitution type of each individual was performed by doctors who diagnose the Sasang constitutional type of individuals as part of their professional practice. We calculated estimates of familial correlation and heritability. Parent-Offspring pairs showed the strongest familial correlation of Sasang constitutional type, with the correlation values of 0.21 and 0.28, followed by sibling pairs with the value ranging between 0.14 and 0.25. From the heritability analysis conducted with the Variance-Component method, the heritability of TE (Tae-Eum) type, SY (So-Yang) type, and SE (So-Eum) type were 55%, 41%, and 47%, respectively. This pattern of heritability was consistent with different set of analyses, which suggest the robustness of our result. Our result clearly shows that the Sasang constitution type is heritable, and further genetic analysis based on our result will shed light on the biological mechanism of Sasang constitution.

• Korean Journal of Social Welfare
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• v.64 no.4
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• pp.189-207
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• 2012

This study aims to explore the effect of youth activity on aspects of individual, family, and school life on youths. Also, this study verifies the consideration of self-esteem as a mediated variable in reporting the effectiveness of youth activities. For the purpose, this study collected data from 1,088 high school and junior high school students in Jeollabuk-do, and performed a final data analysis from 1,063 of those students. SPSS 19.0 and Amos 18.0 were used to analyze the data. As the result of study, youth activities have a positive significant effect on individual, familial, and school life for the youth involved. The results also show that youth activity experiences contribute to self-esteem completely in the youths' individual aspect, and to partially in both familial and school life as well. This study suggested direction in conjunction with the activation of youth activities by analyzing the effectiveness of youth activities from a variety of viewpoints such as individual, familial, and school life for the youths involved.

• Journal of the korean academy of Pediatric Dentistry
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• v.31 no.4
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• pp.696-700
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• 2004

Gingival fibromatosis is a non-inflammatory oral disease, characterized by slowly progress enlargement of the free and attached gingiva. Gingival fibromatosis may have familial tendency. Gingival enlargement usually begins with the eruption of the permanent dentition but can also develop with the eruption of the primary dentition. In this case, a 6-year-old female had gingival enlargement at birth. There was no familial, medical and pharmacologic history of gingival overgrowth. Treatment is gingivectomy with a rigorous program of oral hygiene. Recurrence of gingival fibromatosis may well be inevitable. Therefore there is no general aggrement as to the timing of surgical intervention. Generally the best time is when all the permanent teeth have erupted. However early intervention can improve oral function and esthetic and psychologic effect.