• Title/Summary/Keyword: Hereditary factor

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Atractylochromene Is a Repressor of Wnt/β-Catenin Signaling in Colon Cancer Cells

  • Shim, Ah-Ram;Dong, Guang-Zhi;Lee, Hwa Jin;Ryu, Jae-Ha
    • Biomolecules & Therapeutics
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    • v.23 no.1
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    • pp.26-30
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    • 2015
  • Wnt/${\beta}$-catenin signaling pathway was mutated in about 90% of the sporadic and hereditary colorectal cancers. The abnormally activated ${\beta}$-catenin increases the cancer cell proliferation, differentiation and metastasis through increasing the expression of its oncogenic target genes. In this study, we identified an inhibitor of ${\beta}$-catenin dependent Wnt pathway from rhizomes of Atractylodes macrocephala Koidzumi (Compositae). The active compound was purified by activity-guided purification and the structure was identified as 2,8-dimethyl-6-hydroxy-2-(4-methyl-3-pentenyl)-2H-chromene (atractylochromene, AC). AC suppressed b-catenin/Tcell factor transcriptional activity of HEK-293 reporter cells when they were stimulated by Wnt3a or inhibitor of glycogen synthase kinase-$3{\beta}$. AC down-regulated the nuclear level of ${\beta}$-catenin through the suppression of galectin-3 mediated nuclear translocation of ${\beta}$-catenin in SW-480 colon cancer cells. Furthermore, AC inhibits proliferation of colon cancer cell. Taken together, AC from A. macrocephala might be a potential chemotherapeutic agent for the prevention and treatment of human colon cancer.

Frontotemporal Dementia (전두측두엽 치매)

  • Jun, Byoung Sun;Park, Joon Hyuk
    • Korean Journal of Biological Psychiatry
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    • v.23 no.3
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    • pp.69-79
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    • 2016
  • Frontotemporal dementia (FTD) is a degenerative disease characterized by the selective frontal and temporal lobe atrophy, and progressive deficits in behavior, executive function, or language. The prevalence and incidence of FTD are 15-22/100000 and 2.7-4.1/100000, respectively, in midlife. Hereditary is an important risk factor for FTD. Although there is some controversy regarding the further syndromatic subdivision of the different types of FTD, FTD is clinically classified into behavioral variant of frontotemporal dementia, semantic dementia and progressive nonfluent aphasia. FTD can be misdiagnosed as many psychiatric disorders because of similarity of the prominent behavioral features. Advances in clinical, imaging, and molecular characterization have increased the accuracy of FTD diagnosis, thus developing for the accurate differentiation of these syndromes from psychiatric disorders. We also discuss about therapeutic strategies for symptom management of FTD. Medications such as serotonin reuptake inhibitors, antipsychotics, and other novel treatments have been used in FTD with various rates of success. Further advanced research should be directed at understanding and developing new diagnostic and therapeutic modalities to improve the FTD patients' prognosis and quality of life.

A Case of Antiphospholipid Syndrome Associated with Protein C Deficiency (C단백질 부족증과 관련된 항인지질 증후군 1례)

  • Nam, Y.S.;Han, S.Y.;Choi, D.H.;Yoon, T.K.;Cha, K.Y.
    • Clinical and Experimental Reproductive Medicine
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    • v.26 no.1
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    • pp.123-126
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    • 1999
  • A successful outcome of pregnancy requires an efficient uteroplacental vascular system. Since this system may be compromised by disorders of haemostasis associated with a prothrombotic state, maternal thrombophilia might be a risk factor for fetal loss. Hereditary deficiencies of the naturally occuring anticoagulants are well recognized conditions predisposing to recurrent venous thromboembolism. Since thrombotic phenomena have been implied as a cause of abortion and stillbirth, these deficiencies might increase the risk of fetal demise. We have experienced a case of antiphospholipid syndrome associated with protein C deficiency in patient with recurrent spontaneous abortion. So we report this case with a brief review of literatures.

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A Study on the Continuity of Traditional Elements and Contemporary Change of Japanese Houses -Focused on the Change the Interior Space- (일본주택의 현대적 변화와 전통적 요소의 지속에 관한 연구 -내부공간의 변화를 중심으로-)

  • Son, Kwang-Ho;Kim, Kang-Sub
    • Journal of the Korean Institute of Rural Architecture
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    • v.12 no.1
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    • pp.41-48
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    • 2010
  • A house is basic unit of human being living space and it reflects an occupation, family relation, a life style and sense of value of resident. The purpose of this study was to research the continuity of traditional elements and contemporary change of Japanese houses by field study and literature research. The subject of this study was sixteen houses of Miyashiro, Saitama pref. in Japan. The results of this study are as follow as. First, the traditional elements of contemporary Japanese houses are tatami floor room, tsuzukima, zashiki, dokonoma, butsudan, amado. Second, the tatami is symbol of Japanese living space. Wasizus maintains a traditional characteristic, but it is developed and fixed properly change in contemporary life. Third, the traditional elements of Japanese houses are continuing in the modern houses, and they are continuously changed the feature from recreate. It can be a connection of a hereditary factor of residential culture. Four, the continuity of modern change and traditional element of the Japanese houses can be understood the change of the structural and spatial responding method to accommodates a life.

Alagille syndrome and a JAG1 mutation: 41 cases of experience at a single center

  • Ahn, Kyung Jin;Yoon, Ja Kyoung;Kim, Gi Beom;Kwon, Bo Sang;Go, Jung Min;Moon, Jin Su;Bae, Eun Jung;Noh, Chung Il
    • Clinical and Experimental Pediatrics
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    • v.58 no.10
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    • pp.392-397
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    • 2015
  • Purpose: Alagille syndrome is a complex hereditary disorder that is associated with cardiac, hepatic, skeletal, ocular, and facial abnormalities. Mutations in the Notch signaling pathway, such as in JAG1 and NOTCH2, play a key role in embryonic development. A cardiac or hepatic presentation is a critical factor for determining the prognosis. Methods: We conducted a retrospective study of 41 patients with Alagille syndrome or a JAG1 mutation between 1983 and 2013. Results: The first presentations were jaundice, murmur, cyanosis, and small bowel obstruction at a median age of 1.0 months (range, 0-24 months). The JAG1 mutation was found in 27 of the 28 genetically-tested patients. Cardiovascular anomalies were identified in 36 patients, chronic cholestasis was identified in 34, and liver transplantation was performed in 9. There was no significant correlation between the severity of the liver and cardiac diseases. The most common cardiovascular anomaly was peripheral pulmonary stenosis (83.3%), with 13 patients having significant hemodynamic derangement and 12 undergoing surgical repair. A total bilirubin level of >15 mg/dL with a complex surgical procedure increased the surgical mortality (P=0.022). Eight patients died after a median period of 2.67 years (range, 0.33-15 years). The groups with fetal presentation and with combined severe liver and heart disease had the poorest survival (P<0.001). Conclusion: The group with combined severe liver and heart disease had the poorest survival, and a multidisciplinary approach is necessary to improve the outcome.

Microsatellite Instability and p53, k-ras c-myc Oncoprotein Expression in Non-Small Cell Lung Carcinoma (비소세포 폐암에서의 Microsatellite Instability와 p53. K-ras, c-myc 암단백의 발현)

  • 나석주;곽문섭
    • Journal of Chest Surgery
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    • v.33 no.1
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    • pp.60-67
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    • 2000
  • Background: Microsatellites are short-tandem repeated uncleotide sequences present throughout the human genome. Alterations of microsatellites have been termed microsatellite instability(MI). It has been generally known that microsatellite instability detected in hereditary non-polyposis colorectal cancer (HNPCC) reflects genetic instability that is caused by impairments of DNA mismatch repair system regarding as a novel tumorigenic mechanism. A number of studies reported that MI occurred at varying frequencies in non-small cell lung carcinoma (NSCLC). However It has been unproven whether MI could be a useful market of genetic instability and have a clinical significance in NSCLC. Material and Method : We have examined whether MI can be observed in thirty NCSLC using polymerase chain reaction whether such alterations are associated with other molecular changes such as p53, K-ras and c-myc oncoproteins expression detected by immunohistochemical stain,. Result: MI(+) was observed in 16.6%(5/30) and MI(-) was 83.3% (25/30) Average age was 50$\pm$7.5 year-old in MI(+) group and 57$\pm$6.6 year-old in MI(-) group. Two year survival rate in MI(=) group (20% 1/5) was worse than MI(-) group (64% 16/25) with a statistic difference. (P=0.04) The positive rate of K-ras oncoprotein expression and simultaneous expression of 2 or 3 oncoproteins expression were higher in MI(+) group than MI(-) group with a statistic difference(P=0.05, P=0.01) Conclusion: From, these results the authors can conclude that MI is found in some NSCLC and it may be a novel tumorigenic mechanism in some NSCLC. We also conclude that MI could be used as another poor prognostic factor in NSCLS.

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A Case of Massive Pulmonary Thromboembolism in a Young Man Attribute to Computer Gaming (젊은 남자에서 장시간의 컴퓨터게임 후 발생한 대량 폐색전증 1예)

  • Kim, Hyun;Choe, Kang Hyeon;Lee, Ki Man;Shin, Yoon Mi
    • Tuberculosis and Respiratory Diseases
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    • v.66 no.3
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    • pp.211-215
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    • 2009
  • Pulmonary thromboembolism occurs in old patients with risk factors, such as, immobilization, chronic medical disease, trauma, a hereditary hypercoagulable state, and others. However, we experienced a young man with a massive pulmonary thromboembolism attributed to immobilization due to computer gaming. The patient had been playing computer games in a seated position for at least five hour continually, and for twelve hours per day over a two-week period. The 36-year-old patient was transferred to our institute rule out the possibility of an acute myocardial infarction. Computer tomography revealed intraluminal filling defects in the distal main pulmonary artery and the left popliteal vein. He received thrombolytic therapy and subsequently recovered without complications. This case raises the possibility that prolonged computer gaming is a risk factor of thromboembolism in young adults.

Colon Cancer Prevention by Detection of APC Gene Mutation in a Family with Attenuated Familial Adenomatous Polyposis

  • Poovorawan, Kittiyod;Suksawatamnuay, Sirinporn;Sahakitrungruang, Chucheep;Treeprasertsuk, Sombat;Wisedopas, Naruemon;Komolmit, Piyawat;Poovorawan, Yong
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.10
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    • pp.5101-5104
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    • 2012
  • Background: Genetic mutation is a significant factor in colon CA pathogenesis. Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary disease characterized by multiple colorectal adenomatous polyps affecting a number of cases in the family. This report focuses on a family with attenuated familial adenomatous polyposis (AFAP) with exon 4 mutation, c.481C>T p.Q161X of the APC gene. Methods: We analyzed 20 members of a family with AFAP. Clinical and endoscopic data were collected for phenotype determination. Genetic analysis was also performed by direct sequencing of the APC gene. Result: Five patients with a phenotype of AFAP were found. Endoscopic polyposis was demonstrated among the second generation with genotype mutation of the disease (age > 50 years) consistent with delayed phenotypic adenomatous polyposis in AFAP. APC gene mutation was identified in exon 4 of the APC gene, with mutation points of c.481C>T p.Q161X. Laparoscopic subtotal colectomy was performed to prevent carcinogenesis. Conclusion: A family with attenuated familial adenomatous polyposis of APC related to exon 4 mutation, c.481C>T p.Q161X, was reported and the phenotypic finding was confirmed by endoscopic examination. Genetic mutation analysis might be advantageous in AFAP for long term colon cancer prevention and management due to subtle or asymptomatic phenotype presentation in early adulthood.

Development of Structural Equation Model for Causal Relationships Among the Risk Factors of Arteriosclerosis (동맥경화증 위험요인들간의 인과관계에 대한 구조모형 구축)

  • 오현수;서화숙
    • Journal of Korean Academy of Nursing
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    • v.29 no.6
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    • pp.1192-1207
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    • 1999
  • The purpose of this study was to clarify the dynamic relationships among risk factors of arteriosclerosis and to develop and examine a model which could explain this relationship clearly. Data were collected from medical records of 400 male clients who visited a university hospital located in Inchon for physical examinations, from May 1996 to December 1996. Data were analyzed using the LISREL (Linear Structural Relationship) 8 program. To test the fitness of the hypothesized model, chi-square, RMSR (root mean square residual), GFI (goodness of fit index), CN (critical number) and Q-plot were used. Most of the fitness measurements, except the chi-square showed that the hypothesized model complimented the real data. According to the results, there were trends that obesity and hyperlipidemia were prevalent in heavier smokers, higher alcohol intakers, and groups who excercised less. Also, hypertension was more prevalent in older age, higher alcohol intaker, and higher serum lipid level groups. In contrast to the hypothesis, alcohol intake did not significantly affect serum lipid levels. This might be due to the serum lipid measurements (total cholesterol and trigryceride) used in this study to estimate hyperlipidemia. The direct effect of smoking on hypertension was not significant. However, the total effect of smoking on the hypertension was significant since indirect effects of smoking on hypertension, such as obesity and hyperlipidemia, were significant. The total effect of obesity on hypertension was significant since the indirect effect of obesity on hypertension via hyperlipidemia was significant, although the direct effect of smoking on hypertension was not significant. The degree of explaining hyperlipidemia with smoking, exercise, and obesity was high (60%), however, the degree of explaining obesity with age, smoking, alcohol intake, and exercise was very low (7%). On the basis of these results, high risk factors of arteriosclerosis such as hypertension, hyperlipidemia, or obesity are either directly or indirectly correlated each other. Therefore, it is difficult to predict outcomes for increasing or decreasing the risk factors by simply modulating a factor. Smoking, alcohol, and exercise both directly and indirectly affected major risk factors of arteriosclerosis. Therefore, correcting these variables is required to decrease risk factors. Finally, the relationship among other risk factors which have been known to be related with arteriosclerosis (diet, stress or hereditary) should be clarified in further studies.

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Weight change pattern and weight control behavior among middle school girls (일부 지역 여중생의 체중변이양상과 체중조절행위에 관한 연구)

  • Kim, Young Im;Kim, Yoon Dul
    • Journal of the Korean Society of School Health
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    • v.8 no.1
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    • pp.155-166
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    • 1995
  • The aim of this study was to determine the extent to which sociodemographic and health related life-style variables explain body weight distribution and to understand weight contol behavior. To study this study 298 students were selected, it was consisted of obesity group(101) and control group(197). The average age of subjects was 14.2 and the prevalence of obesity was 2-3 per class as 5.6% among 1,793. 71% among same subject was showed higher weight pattern than last one year, ovesity group which was obesity both in 93 and 94 was 34%. Correlation between body weight(under weight/obesity) and independent variables including sociodemographic factor and health- related life style tested through Multiple Classification Analysis was very significant, explained 36% of the total variance. Sociodemografic and hereditary factors such as education level, age of father and physical features of parents, life style factors as exercise preference and perceived health status showed highly contribution to body weight. Concretely, there were showed a higher obesity prevalence tendency when education level and age of father was high, physical features of parents was obesity. In otherwise, there were showed a higher underweight prevalence tendency when education level and age of father was low. Experience rates of weight control was 53% generally, 84% in obesity group, and 11% in underweight group. There were utilized weight control behaviors through diet method mainly in obesity group, diet and exercise methods in underweight group. There were showed that underweight group are prefer exercise to obesity group. Conclusionally, These findings suggest that education, age, physical features of parents, exercise preference and perceived health status is important factors related to body weight among middle school girls. Therefore, there will be considered as valuable factors when we practice health education and consultation related to body weight. Furthermore it is necessary to provide of various informations about weight control and to develop systematic weight control program.

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