• Tuberculosis and Respiratory Diseases
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• v.48 no.1
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• pp.24-32
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• 2000

Purpose: Microsatellite instability(MSI) is frequently used as an indicator of microsatellite mutator phenotype(MMP) tumors. MSI has been observed in a percentage of non-small cell lung cancer(NSCLC). However, its role in tumorigenesis of NSCLC remains unknown. The frequency and pattern of MSI in NSCLC were evaluated and clinical parameters of MSI-positive tumors with those of MSS(microsatellite stable) tumors were compared. Materials and Methods: Twenty surgically resected NSCLCs were analyzed for 15 microsatellite markers located at chromosomes 3p and 9p. The peripheral blood lymphocytes of patients were used as the source of the normal DNA. Results: 1) Of 20 cases, 8(40%) demonstrated MSI. 2) Instability was observed more frequently in tri- and tetra-nucleotide repeats than in dinucleotide repeats. In all cases, instability appeared as a shift of individual allelic bands. 3) LDH was observed in 10(50%) of 20 tumors analyzed. 4) Of 20 cases, MSI-H tumor(showing MSI in the majority of markers) was absent. There were 5 MSI-L tumors(showing MSI in a greater than 10% of markers). 5) No significant difference was observed between MSI-L tumors and MSI-negative tumors in terms of clinicopathologic features such as pack-year history of smoking, histologic subtype, and(delete) stage of disease. There was also no significant difference in the incidence of LDH in relation to the status of MSI. Conclusion: These data strongly suggest that MSI plays different roles in lung and colon cancer. MMP pathway appears to be far less important in the tumorigenesis of NSCLC, caused mainly by cigarette smoke, with little familial tendency.

• Journal of Preventive Medicine and Public Health
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• v.9 no.1
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• pp.55-64
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• 1976

This paper presents the results of a survey for the causes of sensori-neural hearing impairment in Korea, The subjects were 1,676 children of total 2,928 enrolled in 16 Deaf Schools; two schools in each area of Seoul, Busan, Kyoungbook, Kyoungnam, Kyounggi and Chunbug, and each one in Chungnam, Chungbug, Chunnam and Jaeju. The data were collected by questionaire with 28 items distributed to their parents. The filling in the check lists were performed by their class teachers, interviewer, for 18 months from September, 1975 to february, 1976. The questionable or missed problems were reaffirmed. The results obtained were as follows. Most of the reasons, 78.5% were acquired characters that could be developed during pregnant period, the time of delivery and the time of after birth. The pure hereditary reasons except the cases complexed with one or two were only 11.3%. Those who could not be defined with any reasons were 10.2%. Among the acquired causes, 5.8% of total subjects were developed for pregnancy: 3.3%, during delivery; and 69.7%, after birth. In the pregnant period, the drug intoxications were 2.4% of total subjects, several diseases such as influenja, bleeding, surgical operation, venereal diseases and rubella etc. were about one percent, and the accompanied with some symptoms of pregnancy intoxication and traumatic events were 2.4%, During time, the cases with delayed rhythmical pain were 16 persons, the immaturities were 11, the asphyxial cases were nine, the errors of forceps delivery were seven, the cases of low body weight inspite of full term were four, the cases with cesarian section were three, the head injuries were two, and the accompanied with three kinds of above reasons were three. During after birth, the cases with acute communicable diseases were 35.4% of total subjects, the fever unknown origin were 16.1%, the chronic otitis media were 3.7%, the meningitis were 3.5%, the gastric and nutritional diseases were 3.5%, the drug intoxications were 4.8%, the blood diseases were 0.3% and the other causes were 2.2%. Here by acute communicable diseases, some importants were measle, 10.1% of total subjects; meningitis, 7.3%; convulsion with some reasons, 4.9%; poliomyelitis. 3.2%; encephalitis, 2.4%; and mumps, rubella, pertusis, scarlet fever, and small pox were somewhat played a role in. Among 59 cases with train diseases, 53 were concussion by the accidents, such as traffic and falling or sliping down etc., the cerebral paralysis and hydrocephalus were two, respectively. And the blood diseases were severe newjaundice in all five cases. If we were summarized with the above mentioned, most of the hearing impairments were introduced by the combined reasons with familial or hereditary factors and the acquired, than by a simple disease. Among the congenital or hereditary hearing impairments classified to now a day, we suppose that the many cases with the acquired causes during pregnancy, delivery and after birth were complexed. Subsequently, the maternal and child health should be more and more developed in our country, also.

• Childhood Kidney Diseases
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• v.9 no.1
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• pp.31-37
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• 2005

Puruose : Thin glomerular basement membrane disease(TGBMD) is found in patients with family history of hematuria. TGBMD is autosomal dominant and is known to be one of the commonest causes of asymptomatic hematuria. This study was conducted to evaluate the histological and clinical features of patients with TGBMD. Methods : 150 cases diagnosed with TGBMD by renal biopsy while admitted in the department of pediatrics, Kyungpook National University Hospital between January 1999 and December 2003 comprised the study group. The following parameters were retrospectively anaIyzed age of onset, hematuria pattern, existence of proteinuria, process of diagnosis, laboratory findings, thickness and character of basement membrane and family history. Results : The mean age at the time of diagnosis was 7.9 years. The male to female ratio was 65:77. 94 patients or 66% visited the hospital with a chief complaint of persistent microscopic hematuria. Gross hematuria accounted for 13 cases or 9%. 78 cases(55%) were found to have hematuria for the first time from a routine school urinalysis screening. The renal biopsy showed the thickness of basement membrane to be 186$\pm$36 nm. Focal lamellation of the basement membrane was found in eight cases. In the family history, hematuria was shown in 10 cases on the Paternal side, 13 on The maternal side and none on both sides. In seven cases, hematuria was shown among siblings. No significant differences were found among the laboratory test results which were conducted at an average interval of fifteen months. Conclusion : TGBMD is one of the major causes of asymptomatic hematuria in children, which was diagnosed in increasing numbers since school urinary mass screening test started in 1998. In cases with familial progressive renal disease or focal duplication in the basement membrane Alport syndrome should be considered.

• Childhood Kidney Diseases
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• v.7 no.2
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• pp.181-188
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• 2003

Purpose : Vesicoureteral reflux(VUR) is known to be the main cause of childhood hypertension and renal failure. Knowing its familial occurrence, we determined the incidence of VUR and renal scar in asymptomatic siblings of Korean patients with primary VUR Methods : A total of 50 siblings from 37 index patients were included. Voiding cystourethro-graphy(VCUG) and renal scintigraphy using $^{99m}Tc-DMSA$ were peformed in these siblings from June, 1994 to May, 2001, Index patients were classified into two groups according to the presence of VUR in their siblings, and the clinical factors of the index patients such as age, sex, grade of reflux and renal cortical defect were compared between the groups. Results : Among the 50 siblings, VUR were found in 8(16%) and renal cortical defects were detected in 8(16%) siblings respectively. The incidence of renal cortical defects was 87.5%(7 out of 8) in the VUR(+) siblings. There was a case of VUR(-) cortical defect in one sibling, presumed as a scar from an old VUR. There was no relationship among age, sex, grade of reflux and renal cortical defect of the index patient to the presence of VUR in siblings. Conclusion : This study confirmed a significant incidence of VUR(16%) and renal cortical defects(16%) in the asymptomatic siblings of patients with primary VUR in Korea. It Is resonable to recommend screening studies to the siblings of patients with VUR for the early detection and prevention of probable reflux nephropathy. (J K orean Soc Pediatr Nephrol 2003;7:181-188)

• Asian-Australasian Journal of Animal Sciences
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• v.32 no.7
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• pp.922-929
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• 2019

Objective: Mutations in low-density lipoprotein receptor (LDLR), which encodes a critical protein for cholesterol homeostasis and lipid metabolism in mammals, are involved in cardiometabolic diseases, such as familial hypercholesterolemia in pigs. Whereas microRNAs (miRNAs) can control LDLR regulation, their involvement in circulating cholesterol and lipid levels with respect to cardiometabolic diseases in pigs is unclear. We aimed to identify and analyze LDLR as a potential target gene of SSC-miR-20a. Methods: Bioinformatic analysis predicted that porcine LDLR is a target of SSC-miR-20a. Wild-type and mutant LDLR 3'-untranslated region (UTR) fragments were generated by polymerase chain reaction (PCR) and cloned into the pGL3-Control vector to construct pGL3 Control LDLR wild-3'-UTR and pGL3 Control LDLR mutant-3'-UTR recombinant plasmids, respectively. An miR-20a expression plasmid was constructed by inserting the porcine premiR-20a-coding sequence between the HindIII and BamHI sites in pMR-mCherry, and constructs were confirmed by sequencing. HEK293T cells were co-transfected with the miR-20a expression or pMR-mCherry control plasmids and constructs harboring the corresponding 3'-UTR, and relative luciferase activity was determined. The relative expression levels of miR-20a and LDLR mRNA and their correlation in terms of expression levels in porcine liver tissue were analyzed using reverse-transcription quantitative PCR. Results: Gel electrophoresis and sequencing showed that target gene fragments were successfully cloned, and the three recombinant vectors were successfully constructed. Compared to pMR-mCherry, the miR-20a expression vector significantly inhibited wild-type LDLR3'-UTR-driven (p<0.01), but not mutant LDLR-3'-UTR-driven (p>0.05), luciferase reporter activity. Further, miR-20a and LDLR were expressed at relatively high levels in porcine liver tissues. Pearson correlation analysis revealed that porcine liver miR-20a and LDLR levels were significantly negatively correlated (r = -0.656, p<0.05). Conclusion: LDLR is a potential target of miR-20a, which might directly bind the LDLR 3'-UTR to post-transcriptionally inhibit expression. These results have implications in understanding the pathogenesis and progression of porcine cardiovascular diseases.

• Radiation Oncology Journal
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• v.26 no.1
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• pp.65-73
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• 2008

Purpose: Women with breast cancer diagnosed at an age of 40 years or younger have a greater prevalence of germline BRCA1 and BRCA2 mutations than the prevalence of women with breast cancer diagnosed at older ages. Several immunohistochemical characteristics have been identified in breast cancers from studies of Caucasian women with BRCA1/2 mutations having familial or early-onset breast cancers. The aim of this study is to determine whether early-onset breast cancer in BRCA1 or BRCA2 mutation carriers, who were not selected from a family history, could be distinguished by the use of immunohistochemical methods and could be distinguished from breast cancer in women of a similar age without a germline BRCA1 or BRCA2 mutation. We also analyzed the prognostic difference between BRCA1/2 related and BRCA1/2 non-related patients by the use of univariate and multivariate analysis. Materials and Methods: Breast cancer tissue specimens from Korean women with early-onset breast cancers were studied using a tumor tissue microarray. Immunohistochemical staining of estrogen receptor(ER), progesterone receptor(PR) and HER-2, as well as the histology and grade of these specimens, were compared. The prognostic impact of immunohistochemical and histological factors as well as the BRCA1/2 mutation status was investigated separately. Results: There were 14 cases and 16 deleterious BRCA1/2 mutations among 101 patients tested. A family history(4/14) and bilateral breast cancers(3/9) were high risk factors for BRCA1/2 mutations. BRCA1/2-associated cancers demonstrated more expression of ER-negative(19.4% versus 5.1%, p=0.038) and HER-2 negative than BRCA1/2 negative tumors, especially for tumors with BRCA1 tumors The BRCA1/2 mutation rate for patients with triple negative tumors(negative expression of ER, PR and HER-2) was 24.2%. Tumor size, nodal status, and HER-2 expression status were significantly associated with disease free survival, as determined by univariate and multivariate analysis, but the BRCA1/2 status was not a prognostic factor. Conclusion: Breast cancer that occurs in women with a germline BRCA1 or BRCA2 mutations have recognizable immunohistochemical features, which may be useful in identifying individuals that are more likely to carry germline mutations. Although the BRCA1/2 mutation status was not a prognostic factor in Korean women with early-onset breast cancer, more cases with a longer follow-up period are needed for further study.

• Korean Journal of Psychosomatic Medicine
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• v.8 no.1
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• pp.31-45
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• 2000

Objectives : The present study was performed to reveal differences between female and male cases of alopecia in their alopecia related variables such as patterns of hair loss, psychiatric characteristics, associate illnesses, and methods of treatment, and to use them as basic materials for proper management and early prevention of the alopecia prone cases. Methods : In order to analysis the gender difference in hair losses, the subjects were divided into two subgroups as the 51 cases of female alopecia and the 42 cases of male alopecia, who had visited to the department of psychiatry consulted from the department of dermatology, Yongsan hopital, ChungAng University, Seoul, Korea, from January 1998 to December 1998. In data analysis, the subjects were statistically assesed by chi-squre test and analysis of varaiance, through SPSS-$PC^+$ 9.0V. Results : 1) Female subjects were more likely showed lower socio-economical level including lower eonomical level, lower educational level, or lower occupational level in their parent's job, were more likely to have larger number of siblings and to have many sisters comparison to the male cases. 2) Female subjects were more likely visited to the department of dermatology, more history of alopecia in their female family members, lesser history of alopecia in their male family members, more loss of hairs in vertex or frontal region of scalp, lesser loss of hairs in occipital region, and lesser nail changes in comparison to the male cases. 3) Female subjects were more suffered from intra-familial conflicts and economical changes, or their introverted personality makeup, lesser likely suffered from changes of business and health changes, and showed lesser conflicts related with poorer adaptaion in their job life. 4) Female subjects were more likely diagnosed as depression or conversion disorders, more frequently complaint anxiety symptoms or depressive symptoms, higher level of anxiety index, lesser complaint somatization or obsessive compulsive symptoms, and lesser diagnosed as anxiety disorder in comparison to the male cases. 5) Female subjects were more likely tended to show personality makeup such as the introverted, the lie, the repressed, or the feminine trends than the male cases. 6) Female subjects were more significantly treated by antianxiety drug such as etizolam and dermatological therapies include tretinoin, and lesser treated by clotiazepam and prednicarbonate in comparison to the male cases. Conclusion : From the facts that The most important factors in developing hair loss in the female subjects in comparison to the male cases seems to be closely correlated with the serious psychopathology such as the presence of mental disorders including depression, the presence of complaining anxiety or depressive symptomatology, the presence of stressful life events such as intrafamilial life changes, and the presence of personality makeup such as the introverted, the lie, the repressed, or the feminine trends, the authors confirmed that dermatologists act as the primary care physician are in a unique position to recognize psychiatric comorbidity and execute meaningful intervention for female patients with the alopecia with psychiatrists.

• Journal of the Daesoon Academy of Sciences
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• v.27
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• pp.171-200
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• 2016

This paper will analyze the filial piety based ethics of Daesoonjinrihoe (大巡眞理會) and the traditional filial piety of Confucianism (儒敎), Buddhism (佛敎) and Taoism (道敎) through comparing and contrasting their unique systems. The traditional Korean ethics regarding filial piety are in great need of reformation as the relationship between the parents and children should not be vertical or unilateral but parallel and reciprocal. However, there have not been sufficient in-depth studies on this specific ideology and alternative approaches. Regarding this prospect, one representative Korean indigenous new religion, Daesoonjinrihoe has emerged and directly engages in the collision between traditionalism and modernity. The modernity of Daesoonjinrihoe, enables the observation of how the filial piety based ethics have developed within a system of doctrine and thereby provides an exemplary model of traditional filial piety reimagined in accordance with modern sensibilities. A brief summary of comparative findings is as follows: First, Daesoonjinrihoe and Confucianism have taken serving parents with respect as an ethic within filial piety, but Confucianism engenders this ideal through the unilateral and unconditional sacrifice of younger people based on patriarchal feudalism whereas Daesoonjinrihoe has rejected such unilateral sacrifice and instead promotes mutual beneficience between parents and children. This difference occurs, in part, due to the filial piety of Confucianism rising in the midst of the feudal order whereas the ideology of Daesoonjinrihoe contains ideals such as "the reciprocation of favor for mutual beneficence (報恩相生)" and "respect for humanity (人尊)," both of which serve as key principles of the new religious world as envisioned by Daesoonjinrihoe. Second, filial piety in Buddhism and Taoism tends to be passive and inactive and is often expressed by praying for happiness and longevity for one's parents while they are alive and later praying for the heavenly rebirth of one's parents after they die. The filial piety of Daesoonjinrihoe also partially contains such ideas, however; they are extended much further and arrive upon novel and profound expressions. The spectrum of the filial piety in Daesoonjinrihoe expands to the extent children perform actions to resolve their parent's sins and pave a new road for their parents. This filial piety requires a cultivation practice from both parents and children. This system of dual cultivation was established because the world-view of Daesoonjinrihoe enables both parents and children to enjoy happiness and wealth both of which are achieved through the completion of religious objectives following cultivation practice. Third, Confucianism and Daesoonjinrihoe hold memorial services for ancestors with sincerity as an expression of filial piety. Filial piety in the Confucian context excludes ideas from Shamanism and thereby memorial services are held for impersonal entities, however; in the Daesoonjinrihoe context, memorial services are held for personal-entities. Accordingly, holding a memorial service for ancestors with sincerity has a greater sense of realism in Daesoonjinrihoe than it does in Confucianism. Fourth, while Confucianism and Daesoonjinrihoe both aim to requite the grace received from ancestors, the contents of grace and reciprocation of favors (報恩) are viewed differently. In Confucianism, since the ancestors existed previously and bestowed the gift of life to their children and indirectly, all of their descendents. Therefore, memorial services for ancestors are held to convey gratitude and filial piety. However, in Daesoonjinrihoe, ancestors not only bestowed the gift of earthly life to their descendents, in the spirit realm, ancestral spirits also spend sixty years accumulating the merit necessary to imbue each of their descendents with spiritual insight. Consequently, filial piety is expressed through memorial services as well as spiritual cultivation. Fifth, in Confucianism, achieving the fame and prestige indicative of success in the mundane world can be an act of filial piety as it would bring pride to one's ancestors, but in Daesoonjinrihoe, succeeding in religious objectives through spiritual cultivation is considered to be a higher form of filial piety. Sixth, Confucianism, Buddhism and Taoism all observe filial piety as system of familial ethics based in morality. This is likewise true of Daesoonjinrihoe, however; Daesoonjinrihoe confers greater importance on filial piety as an essential form of ethics for religious redemption. This is due to the Daesoon interpretation that the absence of filial piety was the direct cause which led to the sickened state of the world and its collapse. Forgetting the grace of parents who have given the gift of life or the grace of ancestral spirits who have accumulated merit on behalf of their descendents are acts of ingratitude which are unacceptable during the period of Reordering of the Universe. Judging from these findings, Daesoonjinrihoe embraces parts of traditional filial piety as it exists in Confucianism, Buddhism and Taoism, but it does so on the ground of its own unique culture. Through re-interpretation and re-creation, ideas regarding filial piety are being further developed. Namely, filial piety in Daesoonjinrihoe is regulations founded upon the reciprocation of favors for mutual beneficence and respect for humanity. Therefore, it is understood as a concept wherein one's own cultivation practice is performed in order to reach religious objectives, the perfection of personal character, and spiritual insight. This requires that even recipents of filial piety (i.e., parents) perform certain cultivation practices to enjoy happiness and wealth. Additionally, filial piety in Daesoonjinrihoe manifests a reinforced religious character and also serves as a system ethics which is soteriologically essential for salvation during the period known as the Reordering of the Universe.