• Title/Summary/Keyword: familial correlation

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Is There Any Spousal Concordance of Cerebrovascular Risk Factors in Stroke Patients? : A Preliminary Study (뇌졸중 환자에서 배우자 사이에 뇌혈관 질환의 위험요인 일치성이 있는가? : 예비 연구)

  • Lee, Hyung-Suk;Ko, Young-Chai;Baek, Shin-Hye;Shin, Kyeong-Seob;Kim, Ji-Sun;Han, Hyun-Jeong;Shin, Dong-Ick
    • The Journal of the Korea Contents Association
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    • v.11 no.5
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    • pp.308-316
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    • 2011
  • Familial concordance of vascular risk factors is well understood and there are many studies about inter-spouse concordance of the risk factors for coronary heart disease. However, there are no studies for inter-spousal relation of the risk factors in cerebrovascular disease patients. We analysed inter-spouse correlation of cerebrovascular risk factors in patients admitted our hospital due to stroke and their spouses. There was statistically significant inter-spouse concordance in the presence of hypertension(p=0.025) and carotid IMT(r=0.479, p=0.001). However, the further age-adjusted analysis revealed no significant result. Differently from the results of previous studie,, the present study shows no significant spousal concordance. Althought there are tendencies of spousal concordance in some risk factors, the age is major determinant.

Detection of Germline Mutations in Argentine Retinoblastoma Patients: Low and Full Penetrance Retinoblastoma Caused by the Same Germline Truncating Mutation

  • Dalamon, Viviana;Surace, Ezequiel;Giliberto, Florencia;Ferreiro, Veronica;Fernandez, Cecilia;Szijan, Irene
    • BMB Reports
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    • v.37 no.2
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    • pp.246-253
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    • 2004
  • Constitutional RB1 gene mutations were studied in a series of 21 families with unilateral and bilateral retinoblastoma patients. Peripheral blood lymphocytes were analyzed by "exon by exon" PCR-heteroduplex and sequencing. Mutations were identified in 6 (29%) of the patients. One mutation corresponded to an intronic polymorphism in g.174351T > A. The other five mutations resulted C to T exonic transitions, four were CGA sequences (g.65386, g.150037 in two patients, and g.162237), creating stop codons and presumably truncated proteins. The fifth one was new and resulted in alanine to valine substitution (g.73774). Two patients had the same the germline truncated mutation (g.150037C > T), one with a familial bilateral early onset retinoblastoma and one with a sporadic unilateral late onset retinoblastoma. The later type has not been previously described. This finding is discussed in the genotype/phenotype correlation context. Additionally, a single nucleotide change was found in six studied samples, where a C to T homozygous transversion was identified in intron 26 (IVS26 + 28). It is worthy the non concordance of the nucleotide with the published sequence. This analysis proved to be a useful method for the detection of mutations in the RB1 gene, and contributed to the adequate genetic counseling to patients and relatives.

A Study on the Verification of the Profile of Seo구s Elderly Stress Scale (SESS) (노인 스트레스 측정 도구(SESS)의 신뢰도 및 타당도 검증 연구)

  • 서현미;유수정;하양숙
    • Journal of Korean Academy of Nursing
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    • v.31 no.1
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    • pp.94-106
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    • 2001
  • The purpose of this study was to verify the use of Seo's Elderly Stress Scale (SESS), which was developed in 1996. Through the modified tool, it is possible to examine the stress of Korean elders and to contribute to the welfare of them. The subjects were 350 elders over 65 years old who live in Seoul, Kwang-Ju, Yang-Ju Gun Kyung-ki Do, Ui-Jong Bu, and Young-Am Kun, Jeun-Ra Nam Do. the data of 331 elders (94%) were analyzed. Data were collected between January and March in 1996 and analyzed using the SPSS Win 8.0. The result are as follows: 1. Items with low correlation with the total items were removed. So 27 items were removed and 37 items remained. This 37 items were death in the family and/or close friends, family member's behavior not meeting expectations, marriage of daughter, marriage of son, friction with daughter- in-law, argument among children, children refuse to live with parent, children leaving home, sex injury or accident, in frequest visits from children and grandchildren, providing care for your daughter or daughter-in-law post-partum, decrease in decision making and authority in home, Lunar new year and the harvest featival, house sitting, working in the house, performing a sacrificial rite, missed birthday, not living with the eldest son, decreased eyesight, decreased strength, decreased memory, sleep pattern changes, thoughts about death, loneliness, decreased hearing, change of dental condition, change in your diet or eating style, difficulty in self care, moving because of disease or aging, argument with friend or neighbour, travel, dealing with the procedure of heritage, loss of money or property, not enough pocket money, hearing on elderly neglect in television or radio, hope of going home and ignorant from others. 2. Overlapped items were discussed by colleagues and were modified. 'marriage of daughter' and 'marriage of son' were modified in 'marriage of children'. 'self injury or accidents' and 'family accidents' were modified in to self or family accidents. 3. Factor analysis was done in order to identify validity and three factors were obtained from the result. The first factor familial relation area, included 17 items. The second factor, physical area, included 9 items. The third factor, psycho-socio-economic area, included 9 items. Cronbach coefficient alpha for the 35 items was .923. 4. Pearson's correlation was .704 between SESS and SOS (Symptoms of Stress) in order to confirm construct validity. Based on the result, the following is suggested; 1. The modified SESS needs to be reverified with elder. 2. Korean elder's health promotion can be made by development of stress intervention which was accurately measured with SESS.

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The Relations between Familial Predictors and Infant-Toddler Development: Comparison between Full-Time Child Care vs. Exclusive Mother Care (가족관련변인과 영유아발달의 관계 : 종일제 보육과 어머니 단독양육의 비교)

  • Chang, Young Eun
    • Korean Journal of Childcare and Education
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    • v.10 no.4
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    • pp.159-176
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    • 2014
  • This study aims to examine the suggestions by studies that family predictors are related to developmental outcomes more strongly for children reared principally by their parents compared to those with extensive child care experience. Zero-order correlations between family predictors and developmental outcomes were conducted and the significance of differences in correlation coefficients between the two child care groups were examined. There was no evidence that there exist systematic differences between the two groups in predictive power of family factors except a few exceptions. At 2 years, social parenting style was more strongly associated with communication ability in the extensive child care group. At 3 years, some HOME subscales were related to a child's expressive and receptive vocabulary skills in significantly greater magnitudes in the mother care group. The findings also implied the potential contribution of child care environment on developmental outcomes for those who spend extensive hours in nonmaternal care.

The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome (한국인 묘성증후군 20명 환자에서의 5p 결실 양상 분석)

  • Park, Sang-Jin;Kim, Sook-Ryung;Baek, Kum-Nyeo;Yoon, Joon-No;Jeong, Eun-Jeong;Kown, Ji-Eun;Kim, Hyon-J.
    • Journal of Genetic Medicine
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    • v.4 no.2
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    • pp.133-141
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    • 2007
  • Purpose : Cri-du-Chat syndrome (CdCs) is a rare but clinically recongnizable condition with an estimated incidence of 1:50,000 live births. The clinical characteristics of the syndrome include severe psychomotor and mental retardation, microcephaly, hypertelorism, hypotonia, and slow growth. Also the size of the chromosome 5p deletion ranges were known from the region 5p13 to the terminal region. In this study, we report the spectrum of 5p deletion in Korean 20 pts. with CdCs and genotype-phenotype associations in CdCs. Methods : In order to delineate genotype-phenotype correlation, molecular cytogenetic studies including GTG banding and clinical characterization were performed on Korean 20 pts with CdCs including parents. CGH array and Fluorescence in situ hybridization (FISH) analysis were used to confirm a terminal deletion karyotype and map more precisely the location of the deletion breakpoint. Results : Molecular analysis of the spectrum of 5p deletion revealed 9 pts (45%) with a del (5)(p14), 7 pts. (35%) a del (5)(p13), 3 pts. (15%) a del (5)(p15.1) and 1 pt. (5%) a del (5)(p15.2) in 20 pts with CdCs. 4(20%)pts were identified to have additional chromosome abnormalites of deficiency and duplication involving chromosomes of 6, 8, 18, & 22. Parental study identified 3 familial case (2 paternal and 1 maternal origin) showing parents being a balanced translocation carrier. And the comparison study of the deletion break points among these 20 pts. with their phenotype has showed the varying clinical pheno-types in the CdCs critical region. Conclusion : The characterization of 5p deletion including parental study may help to delineate the genotypephenotype correlation in CdCs. Also these molecular cytogenetic analyses will be able to offer better information for accurate genetic diagnosis in CdCs and further make possible useful genetic counseling in pts. and family.

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Relationship between porcine miR-20a and its putative target low-density lipoprotein receptor based on dual luciferase reporter gene assays

  • Ding, Yueyun;Zhu, Shujiao;Wu, Chaodong;Qian, Li;Li, DengTao;Wang, Li;Wan, Yuanlang;Zhang, Wei;Yang, Min;Ding, Jian;Wu, Xudong;Zhang, Xiaodong;Gao, Yafei;Yin, Zongjun
    • 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.

The Effects of Personal, Familial, School Environmental Variables on Mobile Phone Addiction by Adolescent (청소년의 휴대폰 중독성에 영향을 미치는 개인, 가족, 학교환경 변인)

  • Lee, Yeon-Mi;Lee, Seon-Jeong;Shin, Hyo-Shick
    • Journal of Korean Home Economics Education Association
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    • v.21 no.3
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    • pp.29-43
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    • 2009
  • The purposes of this study were to examine effective variables influencing on adolescents' mobile phone addiction. The subjects were the 666 middle or high school students who had their own mobile phone in Gwangju. Data were analyzed with frequency, percentage, cronbach's ${\alpha}$, mean, SD, pearson's correlation and multiple regression using SPSS/PC WIN 14.0 program. The major findings were as follows: 1. The most frequently used function of student mobile phones was text message and they used text message more than 41 times a day. Mostly they were talking to the same sex friends on the phone and the monthly charges ranged from 20,000 to 30,000 won. In general, they called to their friends after school. Their parents' attitudes toward their mobile phone using showed that the most of their parents did not care about their children's mobile phone use. The restriction of using their mobile phone at school was normal. 2. The average scores of mobile phone addiction were lower than median(3.0) and self esteem, self control, family strengths, peer conformity and school life adaptation were higher than median. 3. The adolescence's mobile phone additions were influenced by peer conformity, school life adaptation, school levels, sex and self control. And these variables explained to the adolescence's mobile phone additions about 28%.

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Clinical Study of Hypophosphatemic Rickets (저인산혈성 구루병에 대한 임상적 고찰)

  • Lee Chang-Jin;Cho Hee-Yeon;Kang Ju- Hyung;Shin Choong-Ho;Ha Il-Soo;Cheong Hae-Il;Yang Sei-Won;Choe Yong
    • Childhood Kidney Diseases
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    • v.8 no.2
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    • pp.195-204
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    • 2004
  • Purpose: Hypophosphatemic rickets is a hereditary disease, characterized by hypophosphatemia due to renal phosphate wasting, impaired renal production of 1,25-dihydroxyvitamin $D_3$, rachitic bone deformities and impaired growth. The purpose of this study is to provide clinical profiles of patients with hypophosphatemic rickets in our hospital. Methods: Between July 1983 and February 2004, 56 patients were diagnosed as having hypophosphatemic rickets. The medical records of these patients were reviewed retrospectively. Clinical manifestations, family histories, laboratory data, treatment outcomes were described. Results: Fifty six patients were enrolled in this study. The average age at symptom onset and diagnosis were 20 months and 5 years respectively. Fourteen patients had family histories. The main clinical manifestations were bow legs and short stature. There was a significant negative correlation between the ages and the height z-scores at the time of diagnosis(r=-0.47, P=0.005). Initial laboratory data showed normocalcemia, hypophosphatemia, elevated serum alkaline phosphatase, decreased tubular reabsorption of phosphate and a normal range of 1,25-dihydroxyvitamin $D_3$ Radiographic examinations of bone revealed fraying, widening and cupping of the metaphyseal ends. Treatment consisted of Joulie solution and vitamin D metabolites, and resulted in improved biochemical and radiographic findings. However, height z-scores remained essentially unchanged(P=0.224). Complications of treatment were frequently observed, including hyperparathyroidism, nephrocalcinosis, and hypercalciuria. Sixteen patients had corrective osteotomy and 4 of them underwent leg lengthening together. Conclusion: There was a gap of several years between the onset of symptoms and the diagnosis. Early treatment seems to be essential to growth. For the earlier treatment, the offsprings of affected parents should be followed up closely.

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