• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제21권4호
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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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• 제15권5호
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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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• 제17권4호
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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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• 제52권5호
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• pp.611-614
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• 2009

전신 홍반 루푸스는 자가 항원에 대한 자가 항체를 생성하여 염증을 일으켜 다양한 기관에 손상을 주는 자가 면역 질환이다. 발병 원인은 잘 알려져 있지 않으나, 전신 홍반 루푸스 환자의 가족 중에 전신 홍반 루푸스가 일반인보다 20배 이상 발병 위험이 높아 유전적인 요인이 관련되어 있을 것으로 생각된다. 저자들은 형제에서 발병한 가족성 전신 홍반 루푸스 증례를 경험하였고, 전신 홍반 루푸스와 연관된 조직적합 유전자인 HLA DRB1*1501과 DQB1*0602 유전자를 환아모와 형제들이 공유한 것을 발견하였기에 문헌 고찰과 함께 보고하는 바이다.

• 부모자녀건강학회지
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• 제4권1호
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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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• 제50권7호
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• pp.694-697
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• 2007

발작성 운동이상증(Paroxysmal kinesigenic dyskinesia, PKD)은 경련성 발작과 구분해야 하는 드문 신경질환으로써 1940년에 Mount와 Reback에 의해 발작성 무도무위증(paroxysmal dystonic choreoathetosis)란 용어로 처음 보고되었으며 1967년 Kertesz에 의해 처음으로 발작성 운동이상증(Dyskinesia)으로 명명 되어졌다. PKD는 아동기에서 성인기 초에 호발하며 가족성 우성 유전으로도 나타날 수 있고 chromosome 16p11.2-q12.1, 16q13-q22.1, 2q32-36과 관계 있다는 보고가 있다. 증상은 대부분 수 초 이내 멈추나 드물게 5분 이상 지속되는 경우도 있다. 증상 발현 전에 감각 이상 등의 전구 증상이 동반되는 경우가 있으며 의식소실은 동반되지 않는다. 치료는 carbamazepne, phenytoin, valproic acid, clonazepam 등의 항경련제를 투여하는데 일부에서는 oxycarbazepine이나 levodopa를 투여하기도 한다. 저자들은 한 가족의 세명의 형제에서 나타난 발작성 이상운동증을 경험하고 항경련제(Oxcarbamazepine or Carbamazepine)를 통한 좋은 치료성적을 거두었기에 보고하는 바이다.

• Journal of Chest Surgery
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• 제43권1호
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• pp.67-72
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• 2010

전체 심장 점액종의 10% 정도가 가족성이며 상염색체 우성 유전을 보인다. 저자들은 21세에 좌심방 점액종 제거술을 받고 6년 후에 우심방과 좌심방에 점액종이 재발한 여자 환자와 26세에 우심실과 우심방에 점액종이 발생하여 제거술을 받은 남동생에서 가족성 점액종의 원인이 되는 PRKAR1A 유전자의 돌연변이(c.537delA; p.Gly180GlufsX26)를 확인하였다. 유전자 검사를 통한 가족성 점액종의 진단은 효과적인 치료계획을 세우는데 도움이 된다. 가족성 점액종의 경우 처음부터 다발성으로 존재할 가능성과 잦은 재발을 고려하여 수술 시 종양의 완전 절제와 수술 후 재발에 대한 추적검사가 필수적이다.

• Genomics & Informatics
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• 제7권2호
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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.

• 한국사회복지학
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• 제64권4호
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• pp.189-207
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• 2012

본 연구는 청소년활동이 청소년의 개인과 가족, 학교측면에 미치는 영향을 살펴보고자 한다. 더불어 자아존중감을 매개변수로 고려하여 청소년의 건강한 발달에 청소년활동이 미치는 영향을 검증하였다. 이를 위해 전라북도지역 중, 고등학교 청소년 1,088명의 자료를 수집하여 최종 1,063명의 자료를 SPSS 19.0과 Amos 18.0을 통해 분석하였다. 분석결과 청소년활동은 청소년의 개인과 가족, 학교차원에 정(+)적인 방향으로 유의미한 영향을 미치는 것으로 나타났다. 또한, 청소년활동은 개인차원에서 자아존중감이 완전매개하는 것으로 나타났으며, 가족과 학교차원에서는 자아존중감이 부분매개하는 것으로 나타났다. 즉, 청소년활동이 청소년의 건강한 성장발달에 긍정적인 영향을 미치며, 이를 자아존중감이 매개한다는 것을 경험적으로 검증하였다. 결론에서는 분석결과를 기반으로 청소년 활동의 활성화 방안을 위한 실천적 정책적 대안을 제시하였다.

• 대한소아치과학회지
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• 제31권4호
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• pp.696-700
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• 2004

치은 섬유종증은 유리 치은과 부착 치은이 점진적으로 증식되는 비염증성 질환이다. 대부분 가족력이 있으며 영구치 맹출과 함께 발병하지만 유치 맹출시기에 드물게 출생 시부터 나타나기도 한다. 본 6세 여아의 경우 태어날 때부터 치은의 일부가 증식되어 있었고 가족력 및 치은 증식을 유발하는 약물을 복용한 병력은 없었다. 구강내 검진 시 섬유성 치은 증식 이 관찰되어 절제 생검을 시행하였고 그 결과 치은 섬유종증으로 진단하였다. 치은 섬유종증의 치료는 치은 절제술과 철저한 구강 위생의 관리이다. 그러나 치료 후 재발성 때문에 치료시기에 대해서는 논란 중이다. 일반적으로 영구치가 모두 맹출 한 이후에 치료할 것을 추천하지만 조기 치료는 구강의 기능 및 환아의 심미적, 심리적인 문제점을 개선시켜 주는 장점이 있다.