• 보건행정학회지
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• 제34권2호
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• pp.156-162
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• 2024

연구배경: 본 연구는 지역박탈지수(Area Deprivation Index, ADI)와 우리나라 노인의 노쇠와의 관련성을 분석하는 것을 목적으로 하였다. 방법: 2014년부터 2019년까지 국민건강영양조사 자료 중 65세 이상 노인을 대상으로하였다. 노쇠는 Fried phenotype을 기준으로 평가하였다. ADI와 노쇠의 관련성을 검증하기 위하여 다중 로지스틱 회귀분석을 실시하였다. 결과: 연구대상자 9,825명 중 ADI가 낮은 지역의 노인보다 높은 지역의 노인이 1.23배 더 (odds ratio [OR], 1.23; 95% confidence interval [CI], 1.09-1.37). 기혼자의 경우 ADI가 낮은 지역에 거주하는 노인보다 높은 지역에 거주하는 노인이 1.35배(OR, 1.35; 95% CI, 1.16-1.57) 더 노쇠한 것으로 나타났다. 결론: 본 연구는 65세 이상의 노인을 대상으로 ADI와 노쇠의 관련성을 파악하였다. 특히 기혼자의 경우 ADI가 높은 지역에 거주할 수록 더 노쇠한 것으로 나타났다. 따라서 건강불평등 해소를 위해 박탈지수가 높은 지역과 낮은 지역 간 격차를 감소시키기 위한 정책적 개입의 필요성을 제언한다.

• 대한유전성대사질환학회지
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• 제17권2호
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• pp.48-54
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• 2017

목적: Fukuyama 선천성 근이영양증은 희귀한 열성 유전질환으로 영아 시기에 발병하는 근긴장 저하, 뇌 기형 및 dystroglycanopathy 특징들을 보인다. 선천성 근육병의 넓은 스펙트럼에 여러 질환들이 존재하여 Fukuyama 선천성 근이영양증 진단을 어렵게 하지만, 유전형과 표현형 상관관계를 파악하면 진단을 도울 수 있다. 이 연구에서는 분자유전학 분석을 통해 선정한 FKTN 유전자와 Fukuyama 선천성 근이영증의 표현형의 연관성에 대해 알아보았다. 방법: 이 연구는 후향적으로 9명의 대상자들로 진행하였다. 영아 시기에 발병하는 근긴장 저하의 증상 및 뇌 자기공명영상에서 기형 소견을 보인 환자들을 대상으로 선정하였다. 그리고 FKTN 유전자를 이용한 염기서열 검사를 통해 유전자를 분석하였다. 결과: 9명의 대상자들 중 남성이 4명(44.4%), 여성이 5명(55.5%) 였다. 첫 증상이 발병한 나이의 중간값은 3.1개월였다. 6명(66.7%) 에서 첫 증상이 발달지연으로 나타났다. 모든 환자들은 영아 시기에 근긴장 저하 및 전반적 발달 지연 소견을 보였다. 또한, 모든 환자들은 뇌 자기공명영상에서 뇌 피질 기형 소견을 보였다. 9명의 환자들 중 6명이 근육생검 검사를 실시하였고 그 중 4명(4/6; 66.7%)이 특이 소견을 보였다. Fukuyama 선천성 근이영양증을 일으키는 FKTN 유전자 돌연변이는 3명에서 발견되었다. 결론: 이 연구에서 FKTN 유전자 변이를 보인 3명의 대상자들은 모두 뇌 자기공명영상에서 큰뇌이랑증 및 소뇌 형성장애 소견들을 보였다. 이것을 통해 근육병 증상을 보이면서 뇌 자기공명영상에서 특징적인 소견들을 보일 시 Fukuyama 선천성 근이영양증을 진단할 가능성을 높일 수 있다는 것을 확인하였다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제23권1호
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• pp.49-62
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• 2020

Purpose: We aimed to investigate the disease phenotype of Korean pediatric Crohn's disease (CD) patients at diagnosis according to the Paris classification by comparison with patients from the European multicenter 5-years recruitment of children with newly developed IBD (EUROKIDS registry). Methods: Korean children and adolescents who had been newly diagnosed with CD at the age of <18 years during 2013-2016 were included in this multicenter retrospective study. Disease phenotype at diagnosis was classified according to the Paris classification, and compared with the published data from the EUROKIDS study. Results: A total of 255 patients were included. The median diagnosis age was 14.7 years (range, 0.8-17.9 years). No significant difference was observed in male-to-female ratio with EUROKIDS (1.9:1 vs. 1.45:1, p=0.062). The proportion of children aged <10 years was significantly lower in Koreans (7.1% vs. 19.6%, p<0.001). Colonic disease was less prominent (10.0% vs. 27.3%, p<0.001), while upper GI involvement was more prominent in Korean children (59.3% vs. 46.2%, p<0.001). The proportion with perianal fistulizing disease at diagnosis was significantly higher in Korean patients (44.8% vs. 8.2%, p<0.001). A separate analysis of Korean patients revealed that perianal fistulizing disease at diagnosis was positively associated with male sex and body mass index z-score (odds ratio [OR]=2.12, 95% confidence interval [CI]=1.20-3.76, p=0.010; and OR=1.29, 95% CI=1.05-1.58, p=0.015, respectively). Conclusion: Approximately half of pediatric CD patients in Korea present with perianal fistulas and/or abscesses at diagnosis, which is a distinct feature of CD in Korean children and adolescents compared to their European counterparts. An underlying genetic difference between ethnicities may play a role in this expression of different phenotypes in pediatric CD.

• 대한치과교정학회지
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• 제50권6호
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• pp.407-417
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• 2020

Objective: To investigate the dental phenotypes and treatment modalities (Tx-Mod) in Korean patients with Parry-Romberg syndrome (PRS) using longitudinal data. Methods: The samples consisted of 10 PRS patients, who were treated and/or followed-up at Seoul National University Dental Hospital between 1998 and 2019. Using a novel PRS severity index based on the numbers of the atrophy-involved area and asymmetry-involved item, we classified them into mild (n = 3), moderate (n = 2), and severe (n = 5). Dental phenotypes, including congenitally missing tooth (Con-Missing-Tooth), microdontia, tooth with short root (Short-Root), tooth with dilacerated root, and delayed eruption/impacted tooth, were investigated along with Tx-Mod. Results: The side of occurrence of all dental phenotypes showed 100% concordance with the side of PRS involvement. The most two common dental phenotypes were Con-Missing-Tooth and Short-Root (n = 29 and n = 17 in six patients). The sums of the average number of Con-Missing-Tooth and Short-Root increased from mild PRS to moderate PRS and severe PRS cases (1.0, 6.0, and 6.2). In terms of Tx-Mod, growth observation due to mild atrophy, fixed orthodontic treatment, and grafting were used for mild PRS cases. Tx-Mod for moderate PRS cases involved growth observation for surgery due to an early age at the initial visit. For severe PRS cases, diverse Tx-Mod combinations including unilateral functional appliance, fixed orthodontic treatment, growth observation, grafting, and orthognathic surgery were used. Conclusions: The novel PRS severity index may be useful to provide primary data for individualized diagnosis and treatment planning for PRS patients.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제23권5호
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• pp.439-446
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• 2020

Purpose: The evidence for an association between inflammatory bowel disease (IBD) and obesity is conflicting. Therefore, we set out to review the body mass index (BMI) at presentation of IBD to understand if the rise of the obesity rate in the general population, lead to an increase of obesity in patients with IBD at the time of diagnosis. Methods: Retrospective review of all patients with IBD seen at Children's Hospital and Medical Center from January 1st 2010 to December 31st 2014. From the initial visit and endoscopy, we obtained: age; sex; BMI; disease phenotype; disease severity. Results: We had a total of 95 patients, 35 patients were excluded due to incomplete data or referral being made after diagnosis was made. 28 were males and 32 were females, Age range was 2-17 years. A 37 had Crohn's disease, 19 ulcerative colitis, and 4 indeterminate colitis. Disease severity in 19 cases was mild, 29 moderate and 12 severe. BMI distribution was as follows-obese (5.0%), overweight (6.7%), normal weight (65.0%), mild malnutrition (8.3%), moderate malnutrition (15.0%), severe malnutrition (1.7%). Conclusion: Our data is consistent with other series. Showing most children had a normal BMI, regardless of disease severity or phenotypes. One confounding factor is the possibility of delay in referral to GI. This could mean some obese children may fall in the normal BMI range at the time of diagnosis due to ongoing weight loss. Future studies should include prospective cohort studies, comparing incidence of IBD in obese and non-obese patients, severity at presentation, duration of symptoms, and clinical outcomes.

• Journal of Korean Neurosurgical Society
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• 제38권2호
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• pp.121-125
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• 2005

Objective : Many recent reports have shown that the mature mammalian brain harbors multipotent stem cells, rendering the brain capable of generating new neurons and glia throughout life. Harvested stem cells from an adult rat are transplanted in order to evaluate the cell survival and differentiation. Methods : Using a percoll gradient with a high speed centrifugation method, we isolate neural stem/progenitor cells were isolated from the subventricular zone[SVZ] of a syngeneic adult Fisher 344 rats brain. For 14days expansion, the cultured cells comprised of a heterogeneous population with the majority of cells expressing nestin and/or GFAP. After expanding the SVZ cells in the presence of basic fibroblast growth factor-2, and transplanting then into the hippocampus of normal rats, the survival and differentiation of those cells were examined. For transplantation, the cultured cells were labeled with BrdU two days prior to use. In order to test their survival, the cells were transplanted into the dorsal hippocampus of normal adult Fisher 344 rats. Results : The preliminary data showed that at 7days after transplantation, BrdU+ transplanted cells were observed around the injection deposition sites. Immuno-fluorescent microscopy revealed that the cells co-expressed BrdU+ and neuronal marker ${\beta}$-tubulin III. Conclusion : The data demonstrate that the in vitro expanded SVZ cells can survive in a heterotypic environment and develop a neuronal phenotype in the neurogenic region. However more research will be needed to examine the longer survival time points and quantifying the differentiation in the transplanted cells in an injured brain environment.

• 한국작물학회:학술대회논문집
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• 한국작물학회 2017년도 9th Asian Crop Science Association conference
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• pp.146-146
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• 2017

The pod shattering or dehiscence is essential for the propagation of pod-bearing plant species in the wild, but it causes significant yield losses during harvest of domesticated crop plants. Identifying novel molecular makers, which are linked to seed-shattering genes, is needed to employ the molecular marker-assisted selection for efficiently developing shattering-resistant soybean varieties. In this study, a genetic linkage map was constructed using 115 recombinant inbred lines (RILs) developed from crosses between the pod shattering susceptible variety, Keunol, and resistant variety, Sinpaldal. A 180 K Axiom(R) SoyaSNPs data and pod shattering data from two environments in 2001 and 2015 were used to identify quantitative trait loci (QTL) for pod shattering. A major QTL was identified between two flanking single nucleotide polymorphism (SNP) markers, AX-90320801 and AX-90306327 on chromosome 16 with 1.3 cM interval, 857 kb of physical range. In sequence, genotype distribution analysis was conducted using extreme phenotype RILs. This could narrow down the QTL down to 153 kb on the physical map and was designated as qPDH1-KS with 6 annotated gene models. All exons within qPDH1-KS were sequenced and the 6 polymorphic SNPs affecting the amino acid sequence were identified. To develop universally available molecular markers, 38 Korean soybean cultivars were investigated by the association study using the 6 identified SNPs. Only two SNPswere strongly associated with the pod shattering. These two identified SNPs will help to identify the pod shattering responsible gene and to develop pod shattering-resistant soybean plants using marker-assisted selection.

• Asian-Australasian Journal of Animal Sciences
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• 제24권2호
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• pp.162-172
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• 2011

In this paper, simulation was used to determine accuracies of genomic breeding values for polygenic traits associated with many thousands of markers obtained from high density genome scans. The statistical approach was based upon stochastically simulating a pedigree with a specified base population and a specified set of population parameters including the effective and noneffective marker distances and generation time. For this population, marker and quantitative trait locus (QTL) genotypes were generated using either a single linkage group or multiple linkage group model. Single nucleotide polymorphism (SNP) was simulated for an entire bovine genome (except for the sex chromosome, n = 29) including linkage and recombination. Individuals drawn from the simulated population with specified marker and QTL genotypes were randomly mated to establish appropriate levels of linkage disequilibrium for ten generations. Phenotype and genomic SNP data sets were obtained from individuals starting after two generations. Genetic prediction was accomplished by statistically modeling the genomic relationship matrix and standard BLUP methods. The effect of the number of linkage groups was also investigated to determine its influence on the accuracy of breeding values for genomic selection. When using high density scan data (0.08 cM marker distance), accuracies of breeding values on juveniles were obtained of 0.60 and 0.82, for a low heritable trait (0.10) and high heritable trait (0.50), respectively, in the single linkage group model. Estimates of 0.38 and 0.60 were obtained for the same cases in the multiple linkage group models. Unexpectedly, use of BLUP regression methods across many chromosomes was found to give rise to reduced accuracy in breeding value determination. The reasons for this remain a target for further research, but the role of Mendelian sampling may play a fundamental role in producing this effect.

• 한국균학회소식:학술대회논문집
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• 한국균학회 2014년도 추계학술대회 및 정기총회
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• pp.29-29
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• 2014

Since Darwin and Wallace introduced the concept on the evolution of species, scientists have been furiously debating what species are, and how to define them. This basic yet intriguing question has bothered us ever since, as communicating to fellow biologists about fungal species is the very cornerstone of mycology. For the species presently known, this has largely been accomplished via Latin binomials linked to morphology in the absence of DNA barcodes. In recent years mycologists have embraced the ribosomal ITS as official barcode region for Fungi, and this locus is also mainly used in environmental pyrosequencing studies. Furthermore, DNA data can now also be used to describe sterile species in the absence or lack of distinct morphological structures. Recent developments such as the registration of names in MycoBank, and linking the phenotype to the genotype, have significantly changed the face of fungal systematics. By employing the Consolidated Species Concept, incorporating genealogical concordance, ecology and morphology, robust species recognition is now possible. Several international initiatives have since built on these developments, such as the DNA barcoding of holdings of Biological Resource Centres, followed by the Genera of Fungi Project, aiming to recollect, and epitypify all type species of all genera. What these data have revealed, is that most genera are poly- and paraphyletic, and that morphological species normally encompass several genetic entities, which may be cryptic species. Once we provide a stable genetic backbone capturing our existing knowledge of the past 250 years, we will be able to accommodate novelties obtained via environmental sequencing platforms. Being able to communicate these species to other biologists in a clear manner that is DNA-based, will enable scientists to elucidate the importance, role and ecological interactions that these fungi have on our planet.

• Molecules and Cells
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• 제37권11호
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• pp.795-803
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• 2014

To withstand ever-changing environmental stresses, plants are equipped with phytohormone-mediated stress resistance mechanisms. Salt stress triggers abscisic acid (ABA) signaling, which enhances stress tolerance at the expense of growth. ABA is thought to inhibit the action of growth-promoting hormones, including brassinosteroids (BRs). However, the regulatory mechanisms that coordinate ABA and BR activity remain to be discovered. We noticed that ABA-treated seedlings exhibited small, round leaves and short roots, a phenotype that is characteristic of the BR signaling mutant, brassinosteroid insensitive1-9 (bri1-9). To identify genes that are antagonistically regulated by ABA and BRs, we examined published Arabidopsis microarray data sets. Of the list of genes identified, those upregulated by ABA but downregulated by BRs were enriched with a BRRE motif in their promoter sequences. After validating the microarray data using quantitative RT-PCR, we focused on RD26, which is induced by salt stress. Histochemical analysis of transgenic Arabidopsis plants expressing RD26pro:GUS revealed that the induction of GUS expression after NaCl treatment was suppressed by co-treatment with BRs, but enhanced by co-treatment with propiconazole, a BR biosynthetic inhibitor. Similarly, treatment with bikinin, an inhibitor of BIN2 kinase, not only inhibited RD26 expression, but also reduced the survival rate of the plant following exposure to salt stress. Our results suggest that ABA and BRs act antagonistically on their target genes at or after the BIN2 step in BR signaling pathways, and suggest a mechanism by which plants fine-tune their growth, particularly when stress responses and growth compete for resources.