• Title/Summary/Keyword: Osteogenesis imperfecta

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A Study on Data Classification of Raman OIM Hyperspectral Bone Data

  • Jung, Sung-Hwan
    • Journal of Korea Multimedia Society
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    • v.14 no.8
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    • pp.1010-1019
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    • 2011
  • This was a preliminary research for the goal of understanding between internal structure of Osteogenesis Imperfecta Murine (OIM) bone and its fragility. 54 hyperspectral bone data sets were captured by using JASCO 2000 Raman spectrometer at UMKC-CRISP (University of Missouri-Kansas City Center for Research on Interfacial Structure and Properties). Each data set consists of 1,091 data points from 9 OIM bones. The original captured hyperspectral data sets were noisy and base-lined ones. We removed the noise and corrected the base-lined data for the final efficient classification. High dimensional Raman hyperspectral data on OIM bones was reduced by Principal Components Analysis (PCA) and Linear Discriminant Analysis (LDA) and efficiently classified for the first time. We confirmed OIM bones could be classified such as strong, middle and weak one by using the coefficients of their PCA or LDA. Through experiment, we investigated the efficiency of classification on the reduced OIM bone data by the Bayesian classifier and K -Nearest Neighbor (K-NN) classifier. As the experimental result, the case of LDA reduction showed higher classification performance than that of PCA reduction in the two classifiers. K-NN classifier represented better classification rate, compared with Bayesian classifier. The classification performance of K-NN was about 92.6% in case of LDA.

Establishment and Application of Molecular Genetic Techniques for Preimplantation Genetic Diagnosis of Osteogenesis Imperfecta (골형성부전증의 착상전 유전진단을 위한 분자유전학적 방법의 조건 확립과 적용)

  • Kim, Min-Jee;Lee, Hyoung-Song;Choi, Hye-Won;Lim, Chun-Kyu;Cho, Jae-Won;Kim, Jin-Young;Song, In-Ok;Kang, Inn-Soo
    • Clinical and Experimental Reproductive Medicine
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    • v.35 no.2
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    • pp.99-110
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    • 2008
  • Objectives: Preimplantation genetic diagnosis (PGD) has become an assisted reproductive technique for couples carrying genetic conditions that may affect their offspring. Osteogenesis imperfecta (OI) is an autosomal dominant disorder of connective tissue characterized by bone fragility and low bone mass. At least 95% of cases are caused by dominant mutations in the COL1A1 or COL1A2. In this study, we report on our experience clinical outcomes with 5 PGD cycles for OI in two couples. Methods: Before clinical PGD, we assessed the amplification rate and allele drop-out (ADO) rate of alkaline lysis and nested PCR protocol using heterozygous patient's single lymphocytes in the pre-clinical diagnostic tests for OI. We performed 5 cycles of PGD for OI by nested PCR for the causative mutation loci, COL1A1 c.2452G>A and c.3226G>A, in case 1 and case 2, respectively. The PCR products were analyzed by agarose gel electrophoresis, restriction fragment length polymorphism (RFLP) analysis with HaeIII restriction enzyme in the case 1 and direct DNA sequencing. Results: We confirmed the causative mutation loci, COL1A1 c.2452G>A in case 1 and c.3226G>A in case 2. In the pre-clinical tests, the amplification rate was 94.2% and ADO rate was 22.5% in case 1, while 98.1% and 1.9% in case 2, respectively. In case 1, a total of 34 embryos were analyzed and 31 embryos (91.2%) were successfully diagnosed in 3 PGD cycles. Eight out of 19 embryos diagnosed as unaffected embryos were transferred in all 3 cycles, and in the third cycle, pregnancy was achieved and a healthy baby was delivered without any complications in July, 2005. In case 2, all 19 embryos (100.0%) were successfully diagnosed and 4 out of 11 unaffected embryos were transferred in 2 cycles. Pregnancy was achieved in the second cycle and the healthy baby was delivered in March, 2008. The causative locus was confirmed as a normal by amniocentesis and postnatal diagnosis. Conclusions: To our knowledge, these two cases are the first successful PGD for OI in Korea. Our experience provides a further demonstration that PGD is a reliable and effective clinical techniques and a useful option for many couples with a high risk of transmitting a genetic disease.

Eruption failure of teeth (치아의 맹출장애)

  • Lim, Yong-Kyu;Lee, Dong-Yul
    • The korean journal of orthodontics
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    • v.30 no.1 s.78
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    • pp.67-82
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    • 2000
  • The purpose of this study was to present the causes and their mechanisms of eruption failure of teeth and to investigate the treatment modalities. There are so many reports about eruption failure, but most of them are dealing with local mechanical interferences. But, we have patients suffered from eruption failure of another causes. Many developmental failures show eruption problems of teeth, although in some cases, the primary failure of eruption (failure of the eruption mechanism itself) can be the primary cause. We have to know about the causes, differences, and the treatment modalities for those abnormalities.

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Factors Influencing Social Participation in People with Musculoskeletal Conditions - Applying ICF relevant categories - (ICF 관련 범주에 따른 근골격계질환 장애인의 사회참여 관련요인)

  • Shin, Eun Kyoung;Lee, Han Na
    • Korean Journal of Social Welfare
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    • v.65 no.1
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    • pp.5-31
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    • 2013
  • The principle objective of this study is to determine factors affecting social participation for physically disabled people with musculoskeletal conditions (spinal cord injury, muscular dystrophy, osteogenesis imperfecta, rheumatoid arthritis) in South Korea using ICF relevant categories of the international classification index by WHO. The subjects of this study 352 people with physical disabilities, the data were collected using ICF component(body functions, body structures, activities and participation and environmental factors) and the relevant categories deprived from ICF core sets. The collected data were evaluated with descriptive analysis, ANOVA, correlation analysis, and multiple regression analysis. The results of this study can be summarized as follow. The mental function, Neuromusculoskeletal and movement-related functions, Genitourinary and reproductive functions, Skin and related structures, Learning and applying knowledge, General tasks and demands, and Mobility positively influenced social participation in people with musculoskeletal conditions. However individual factors and environmental factors didn't statistically significant affect on social participation. The implications of the study is to examine by ICF components of universal approach on disability study and utilized the relevant ICF categories as measurement tools.

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Application of Hot Start PCR Method in PCR-based Preimplantation Genetic Diagnosis

  • Kim, Sung-Ah;Kang, Moon-Joo;Kim, Hee-Sun;Oh, Sun-Kyung;Ku, Seung-Yup;Choi, Young-Min;Jun, Jong-Kwan;Moon, Shin-Yong
    • Journal of Genetic Medicine
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    • v.9 no.1
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    • pp.11-16
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    • 2012
  • Purpose: To determine a method to improve the efficacy and accuracy of preimplantation genetic diagnosis (PGD) - polymerase chain reaction (PCR), we compared hot start PCR and conventional multiplex nested PCR. Materials and Methods: This study was performed with single lymphocyte isolated from whole blood samples that were obtained from two couples with osteogenesis imperfecta (OI). We proceeded with conventional multiplex nested PCR and hot start PCR in which essential reaction components were physically removed, and we compared the amplification rate, allele dropout rate and nonspecific products. Afterward, we used selective method for PGD. Results: In the two couples, the respective amplification rate were 93.5% and 80.0% using conventional multiplex nested PCR and 95.5% and 92.0% using hot start PCR. The respective mean allele dropout rates for the two couples were 42.0% and 14.0% with conventional multiplex nested PCR and 36.0% and 6.0% with hot start PCR. Conclusion: The results demonstrate that the hot start PCR procedure provides higher amplification rates and lower allele dropout rate than the conventional method and that it decreased the nonspecific band in multiplex nested PCR. The hot start method is more efficient for analyzing a single blastomere in clinical PGD.

Aster saponin A2 inhibits osteoclastogenesis through mitogen-activated protein kinase-c-Fos-NFATc1 signaling pathway

  • Su, Xiang-Dong;Yang, Seo Y;Shrestha, Saroj K;Soh, Yunjo
    • Journal of Veterinary Science
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    • v.23 no.4
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    • pp.47.1-47.11
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    • 2022
  • Background: In lipopolysaccharide-induced RAW264.7 cells, Aster tataricus (AT) inhibits the nuclear factor kappa-light-chain-enhancer of activated B cells and MAPKs pathways and critical pathways of osteoclast development and bone resorption. Objectives: This study examined how aster saponin A2 (AS-A2) isolated from AT affects the processes and function of osteoclastogenesis induced by receptor activator of nuclear factor kappa-B ligand (RANKL) in RAW264.7 cells and bone marrow macrophages (BMMs). Methods: The cell viability, tartrate-resistant acid phosphatase staining, pit formation assay, polymerase chain reaction, and western blot were carried out to determine the effects of AS-A2 on osteoclastogenesis. Results: In RAW264.7 and BMMs, AS-A2 decreased RANKL-initiated osteoclast differentiation in a concentration-dependent manner. In AS-A2-treated cells, the phosphorylation of ERK1/2, JNK, and p38 protein expression were reduced considerably compared to the control cells. In RAW264.7 cells, AS-A2 suppressed the RANKL-induced activation of osteoclast-related genes. During osteoclast differentiation, AS-A2 suppressed the transcriptional and translational expression of NFATc1 and c-Fos. AS-A2 inhibited osteoclast development, reducing the size of the bone resorption pit area. Conclusion: AS-A2 isolated from AT appears to be a viable therapeutic therapy for osteolytic illnesses, such as osteoporosis, Paget's disease, and osteogenesis imperfecta.