• 대한유전성대사질환학회지
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• 제20권1호
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• pp.29-35
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• 2020

쥬버트 증후군(JS, Joubert syndrome)은 대부분 상염색체 열성으로 유전되는 유전성 대사질환으로 임상증상은 신생아 시기부터 발현된다. 저자들은 신생아기부터 특징적인 임상 증상이 순차적으로 발현되어 임상적으로 JS를 의심하였으나 특징적인 뇌 MRI 소견인 molar tooth sign (MTS)이 늦게 나타난 후 전장엑솜분석(WES, whole exome sequencing)으로 확진 된, 말기 신부전을 동반한 JS 1례를 경험하였기에 보고하고자 한다. 14세 남자 환자는 출생 직후 반복적인 무호흡과 과호흡으로 치료받은 병력이 있으며, 생후 8개월때부터 전반적 발달 지연과 관련되어 처음 병원을 방문하여 기본적인 발달 지연에 관한 검사를 시행하였으나 특이 소견 없었고, 이후 15개월 때 근육생검을 포함한 여러 검사를 통해 사립체(mitochondrial) 질환으로 진단 되었었다. 이후 물리 치료만 하며 관찰 하던 중 안구진탕과 망막질환이 확인되었다. 생후 7세 8개월에는 처음 발작이 있었으며, 말기 신부전이 있어 8세부터 혈액투석을 시작한 후, 혈액 투석 직후 수차례 발작이 있었으나 전해질 불균형으로 인한 발작으로 진단하여 항뇌전증 약물 치료는 하지 않았다. 9세 4개월 때 고혈압으로 인한 뇌출혈로 치료 받았으며, 이때 시행한 뇌 CT상 MTS가 처음 의심되었다. 13세 10개월에 시행한 뇌 MRI 검사상 MTS가 명확히 확인되었고, 전장엑솜 분석으로 JS의 CEP290 mutation (c.6012-12T>A)이 확인되었다. 환자는 신생아기부터 발현된 특징적인 임상 소견과 말기 신부전 상태, 뇌 CT 또는 MRI소견, 그리고 전장엑솜분석 검사로 JS로 확진하였다. JS는 임상 양상이 다양할 뿐만 아니라 진단에 중요한 MTS 소견이 초기에 보이지 않더라도, 임상적으로 의심된다면 확진을 위해서 전장엑솜분석을 시행하는 것이 필요하다.

• 한국산학기술학회논문지
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• 제19권3호
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• pp.186-197
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• 2018

본 연구의 목적은 지역사회에 거주하는 한국 노인을 대상으로 한 신체활동 프로그램이 수면에 미치는 효과를 체계적이고 종합적으로 검증하기 위해 메타분석하는 것이다. 자료수집을 위해 PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analysis) 가이드라인에 따라 2016년 11월 20일까지 출판된 연구물을 체계적으로 수집하고 각 기준에 따라 선별한 결과 총 7편이 메타분석 대상 논문으로 선정되었다. 자료 분석은 Comprehensive Meta-Analysis 3.0 프로그램을 이용하였으며, Q 검정을 통하여 연구들 사이의 동질성 여부를 검정한 후 개별 연구의 효과크기를 병합한 평균 효과크기를 산출하였다. 연구결과, 노인을 대상으로 한 신체활동 프로그램인, 힐링요가, 에어로빅댄스, 아쿠아로빅스, 한국무용, 베하스 운동, 운동프로그램, 타이치 운동이 수면에 미치는 총 효과는 Hedges' g=0.577(95% Confidence Interval (CI):0.337~0.817)로 유의한 효과크기를 보였다. 신체활동 프로그램 중 베하스 운동프로그램은 Hedges' g=0.758(95% CI:0.248~1.267)로 노인의 수면에 가장 큰 효과크기를 보였으며, 타이치 운동프로그램이 Hedges' g=0.697(95% CI:0.071~1.324), 운동프로그램은 Hedges' g=0.650(95% CI:0.141~1.159)의 순으로 효과크기를 보였다. 그러므로 지역사회 거주 노인의 수면의 질 향상을 위한 간호학적 중재를 적용함에 있어, 노인의 수면에 긍정적인 효과를 미치는 베하스 운동과 타이치 운동을 프로그램화 하여 적용하는 것이 도움이 될 것이다. 또한 노인의 수면에 유의한 효과를 미치지 않는 것으로 파악된 중재프로그램의 내용 및 특성, 문제점 등을 분석하여, 향후 노인을 대상으로 한 중재 개발 시 고려할 필요가 있다.

• Asian-Australasian Journal of Animal Sciences
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• 제25권2호
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• pp.240-247
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• 2012

Dietary supplementation with conventional linted cottonseed hulls (LCSH) is a common practice in livestock production all over the world. However, supplementation with mechanically delinted cottonseed hulls (DCSH) and cottonseed linter residue (CLR) is uncommon. Cottonseed by-products, including LCSH, DCSH and CLR, were assessed by chemical analysis, an in situ nylon bag technique, an in vitro cumulative gas production technique and in vitro enzyme procedure. The crude protein (CP) content of CLR (302 g/kg dry matter (DM)) was approximately 3 times that of LCSH and 5 times that of DCSH. The crude fat content was approximately 3 times higher in CLR (269 g/kg DM) than in LCSH and 4 times higher than in DCSH. Neutral detergent fibre (311 g/kg DM) and acid detergent fibre (243 g/kg DM) contents of CLR were less than half those of DCSH or LCSH. Metabolisable energy, estimated by in vitro gas production and chemical analyses, ranked as follows: CLR (12.69 kJ/kg DM)>LCSH (7.32 kJ/kg DM)>DCSH (5.82 kJ/kg DM). The in situ degradation trial showed that the highest values of effective degradability of DM and CP were obtained for CLR (p<0.05). The in vitro disappearance of ruminal DM ranked as follows: CLR>LCSH>DCSH (p<0.05). The lowest digestibility was observed for DCSH with a two-step in vitro digestion procedure (p<0.05). The potential gas production in the batch cultures did not differ for any of the three cottonseed by-product feeds. The highest concentration of total volatile fatty acids was observed in CLR after a 72 h incubation (p<0.05). The molar portions of methane were similar between all three treatments, with an average gas production of 22% (molar). The CLR contained a higher level of CP than did LCSH and DCSH, and CLR fermentation produced more propionate. The DCSH and LCSH had more NDF and ADF, which fermented into greater amounts of acetate.

• Asian-Australasian Journal of Animal Sciences
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• 제30권4호
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• pp.569-575
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• 2017

Objective: The objective of this research was to study the electrical properties and quality of frozen-thawed chicken breast meat and to investigate the relationship between these parameters at different times of frozen storage. Methods: Thawed samples of chicken breast muscles were evaluated after being kept in frozen storage at $-18^{\circ}C$ for different periods of time (1, 2, 3, 4, 5, 6, 7, and 8 months). Results: The results showed that water-holding capacity (WHC) and protein solubility decreased while thiobarbituric acid-reactive substances content increased with increasing storage time. The impedance module of samples decreased during 8-month frozen storage. Pearson correlation coefficients showed that the impedance change ratio (Q value) was significantly (p<0.05) related to pH, color, WHC, lipid oxidation and protein solubility, indicating a good relationship between the electrical properties and qualities of frozen-thawed chicken breast meat. Conclusion: Impedance measurement has a potential to assess the quality of frozen chicken meat combining with quality indices.

• Tuberculosis and Respiratory Diseases
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• 제80권3호
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• pp.247-254
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• 2017

Background: Airway epithelial cells are the first line of defense, against pathogens and environmental pollutants, in the lungs. Cellular stress by cadmium (Cd), resulting in airway inflammation, is assumed to be directly involved in tissue injury, linked to the development of lung cancer, and chronic obstructive pulmonary disease (COPD). We had earlier shown that ACN9 (chromosome 7q21), is a potential candidate gene for COPD, and identified significant interaction with smoking, based on genetic studies. However, the role of ACN9 in the inflammatory response, in the airway cells, has not yet been reported. Methods: We first checked the anatomical distribution of ACN9 in lung tissues, using mRNA in situ hybridization, and immunohistochemistry. Gene expression profiling in bronchial epithelial cells (BEAS-2B), was performed, after silencing ACN9. We further tested the roles of ACN9, in the intracellular mechanism, leading to Cd-induced production, of proinflammatory cytokines in BEAS-2B. Results: ACN9 was localized in lymphoid, and epithelial cells, of human lung tissues. ACN9 silencing, led to differential expression of 216 genes. Pathways of sensory perception to chemical stimuli, and cell surface receptor-linked signal transduction, were significantly enriched. ACN9 silencing, further increased the expression of proinflammatory cytokines, in BEAS-2B after Cd exposure. Conclusion: Our findings suggest, that ACN9 may have a role, in the inflammatory response in the airway.

• 대한치과마취과학회지
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• 제7권1호
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• pp.6-12
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• 2007

배경: 소아 진정 치료 시 서로 다른 용량의 chloral hydrate와 hydroxyzine을 복용 후 midazolam을 구강 점막 하 주사했을 때 행동 반응을 비교하였다. 방법: 총 32회 진정법을 통해 치과치료를 받은 30명의 나이 24-72개월, 체중 20 kg 미만의 미국 마취과학회 신체등급 I의 건강하지만 겁이 많고 협조가 안 되는 소아 환자를 대상으로 2개 치아이상의 보존 치료 및 발치를 필요로 하는 환자를 대상으로 하였다. 호흡기 질환이 있는 아이들은 이 연구에서 제외되었다. 연구 계획은 이대 목동 병원의 임상 실험 심사 위원회에 제출되었다. 1군은 chloral hydrate 50 mg/kg와 hydroxyzine 1 mg/kg 복용 후 점막 하 midazolam 0.2 mg/kg을 추가 투여했고 2군은 chloral hydrate 60 mg/kg와 hydroxyzine 1 mg/kg 복용 후 점막 하 midazolam 0.1 mg/kg을 주사 받았다. 50% nitrous oxide는 치료 중 두 군 모두 유지되었다. 전날 수면 시간과 약물 복용 태도를 기록하였으며 모든 치료 과정은 비디오로 촬영되었다. 맥박 산소 계측기를 이용하여 경피적 산소 포화도와 맥박수를 기록하였고 행동 반응은 Houpt scale을 이용하여 매 2분마다 40분 동안 기록되었다. 전반적인 행동 반응은 Houpt scale를 이용하여 평가되었다. 모든 자료는 SPSS 통계 프로그램을 이용하여 two sample independent t-test를 사용하였다. P 값은 0.05 미만인 경우를 통계학적으로 유의하다고 보았다. 결과: 두 군 간의 경피적 산소 포화도와 맥박수는 모두 정상 범위이며 유의한 차이가 없었다. 행동 반응 비교에서는 치료 처음 10분 동안 2군이 1군에 비해 점수가 높게 나왔으며(P < 0.05), 그 외에는 유의한 차이가 없었다. 전날 총 수면 시간과 약물을 복용하는 태도는 수면 치료 중의 행동 반응에 영향을 주지 않았다. 결론: Chloral hydrate 50 mg/kg 복용과 점막 하 midazolam 0.2 mg/kg은 chloral hydrate 60 mg/kg 복용과 점막 하 midazolam 0.1 mg/kg과 비교할 때 두 약물의 조합은 모두 소아 환자 수면 치료시 안전하고 효과적인 용량이다. Overall behavior와 Q (quiet)의 분포를 비교해 볼 때 두 군 모두 성공적인 진정효과를 기대할 수 있다.

• Asian Pacific Journal of Cancer Prevention
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• 제17권3호
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• pp.1037-1047
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• 2016

HOX transcription factors are evolutionarily conserved in many different species and are involved in important cellular processes such as morphogenesis, differentiation, and proliferation. They have also recently been implicated in carcinogenesis, but their precise role in cancer, especially in cervical cancer (CC), remains unclear. In this work, using microarray assays followed by the quantitative polymerase chain reaction (qPCR), we found that the expression of 25 HOX genes was downregulated in CC derived cell lines compared with non-tumorigenic keratinocytes. In particular, the expression of HOXA9 was observed as down-modulated in CC-derived cell lines. The expression of HOXA9 has not been previously reported in CC, or in normal keratinocytes of the cervix. We found that normal CC from women without cervical lesions express HOXA9; in contrast, CC cell lines and samples of biopsies from women with CC showed significantly diminished HOXA9 expression. Furthermore, we found that methylation at the first exon of HOXA9 could play an important role in modulating the expression of this gene. Exogenous restoration of HOXA9 expression in CC cell lines decreased cell proliferation and migration, and induced an epithelial-like phenotype. Interestingly, the silencing of human papilloma virus (HPV) E6 and E7 oncogenes induced expression of HOXA9. In conclusion, controlling HOXA9 expression appears to be a necessary step during CC development. Further studies are needed to delineate the role of HOXA9 during malignant progression and to afford more insights into the relationship between downmodulation of HOXA9 and viral HPV oncoprotein expression during cercical cancer development.

• Asian-Australasian Journal of Animal Sciences
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• 제20권12호
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• pp.1812-1819
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• 2007

Heart fatty acid-binding protein gene (H-FABP) is an important candidate gene for meat quality. One of the objectives of this study was to screen single nucleotide polymorphisms (SNP) of chicken H-FABP gene among 252 individuals that included 4 Chinese domestic chicken breeds (Fengkai Xinghua (T04), Huiyang Huxu (H), Qingyuan Ma (Q), Guangxi Xiayan (S1)), 2 breeds developed by the Institute of Animal Science, Guangdong Academy of Agricultural Sciences (Lingnan Huang (DC), dwarf chicken (E4)) and one introduced broiler (Abor Acre (AA)). Another objective of this study was to analyze the associations between polymorphisms of the H-FABP gene and fat deposition traits in chickens. PCR-SSCP was used to analyze SNPs in H-FABP and 4 SNPs (T260C, G675A, C783T and G2778A) were detected. Associations between polymorphic loci and intramuscular fat (IMF), abdominal fat weight (AFW) and abdominal fat percentage (AFP) were analyzed by ANCOVA method. The results showed that the T260C genotypes were significantly associated with IMF (p = 0.0233) and AFP (p = 0.0001); the G675A genotypes were significantly associated with AFW, AFP (p<0.01) and IMF (p<0.05); at the C783T locus, AFW and AFP differed highly between genotypes. However, the G2778A loci did not show any significant effect on fat deposition traits in this study. In addition, we found that there were some differences between AFP and definite haplotypes through a nonparametric statistical method, so the haplotypes based on the SNPs except G2778A loci were also significantly associated with IMF, AFW (g) (p<0.05) and AFP (%) (p<0.001). Significantly and suggestively dominant effects of H4H4 haplotype were observed for IMF and the H2H3 was dominant for AFW (g) and AFP (%). The results also revealed that H5H7 haplotype had a negative effect on IMF, while the H5H6 had a positive effect on AFW (g) and AFP (%).

• Asian-Australasian Journal of Animal Sciences
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• 제26권6호
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• pp.838-844
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• 2013

This study was conducted to evaluate chemical composition, nitrogen-corrected true metabolizable energy (TMEn) and true amino acids digestibility of corn distillers dried grains with solubles (DDGS) produced in China. Twenty five sources of corn DDGS was collected from 8 provinces of China. A precision-fed rooster assay was used to determine TMEn and amino acids digestibility with 35 adult cecectomized roosters, in which each DDGS sample was tube fed (30 g). The average content of ash, crude protein, total amino acid, ether extract, crude fiber and neutral detergent fiber were 4.81, 27.91, 22.51, 15.22, 6.35 and 37.58%, respectively. TMEn of DDGS ranged from 1,779 to 3,071 kcal/kg and averaged 2,517 kcal/kg. Coefficient of variation for non-amino acid crude protein, ether extract, crude fiber and TMEn were 55.0, 15.7, 15.9 and 17.1%, respectively. The average true amino acid digestibility was 77.32%. Stepwise regression analysis obtained the following equation: TMEn, kcal/kg = -2,995.6+0.88${\times}$gross energy+$49.63{\times}a^*$ (BIC = 248.8; RMSE = 190.8; p<0.01). Removing gross energy from the model obtained the following equation: TMEn, kcal/kg = 57.88${\times}$ether extracts+$87.62{\times}a^*$ (BIC = 254.3, RMSE = 223.5; p<0.01). No correlation was found between color scores and lysine true digestibility (p>0.05). These results suggest that corn DDGS produced in China has a large variation in chemical composition, and gross energy and $a^*$ value can be used to generate TMEn predict equation.

• Asian Pacific Journal of Cancer Prevention
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• 제15권15호
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• pp.6397-6403
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• 2014

Background: Aberrant promoter hypermethylation has been recognized in human breast carcinogenesis as a frequent molecular alteration associated with the loss of expression of a number of key regulatory genes and may serve as a biomarker. The E-cadherin gene (CDH1), mapping at chromosome 16q22, is an intercellular adhesion molecule in epithelial cells, which plays an important role in establishing and maintaining intercellular connections. The aim of our study was to assess the methylation pattern of CDH1 and to correlate it with the expression of E-cadherin, clinicopathological parameters and hormone receptor status in breast cancer patients of Kashmir. Materials and Methods: Methylation specific PCR (MSP) was used to determine the methylation status of CDH1 in 128 invasive ductal carcinomas (IDCs) paired with the corresponding normal tissue samples. Immunohistochemistry was used to study the expression of E-cadherin, ER and PR. Results: CDH1 hypermethylation was detected in 57.8% of cases and 14.8% of normal adjacent controls. Reduced levels of E-cadherin protein were observed in 71.9% of our samples. Loss of E-cadherin expression was significantly associated with the CDH1 promoter region methylation (p<0.05, OR=3.48, CI: 1.55-7.79). Hypermethylation of CDH1 was significantly associated with age at diagnosis (p=0.030), tumor size (p=0.008), tumor grade (p=0.024) and rate of node positivity or metastasis (p=0.043). Conclusions: Our preliminary findings suggest that abnormal CDH1 methylation occurs in high frequencies in infiltrating breast cancers associated with a decrease in E-cadherin expression. We found significant differences in tumor-related CDH1 gene methylation patterns relevant to tumor grade, tumor size, nodal involvement and age at diagnosis of breast tumors, which could be extended in future to provide diagnostic and prognostic information.