• 대한장애인치과학회지
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• 제7권2호
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• pp.119-122
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• 2011

연골무형성증 환아는 작은 키, 짧은 사지, 척추 측만, 아데노이드와 편도 비대 등의 특징적인 소견으로 인해 치과치료시 많은 주의를 요한다. 대부분의 환자들이 구호흡을 하기 때문에 치과 시술시 호흡이 어려우며, 척추 이상으로 인해 체어에 오래 누워있기 힘든 경우가 많아 이번 증례와 같이 다발성 우식증을 치료하기 위해서는 전신마취 하 시술이 필요한 경우도 있다. 연골무형성증 환아의 치과 진료시에는 타과와의 긴밀한 협조 하에 이러한 전신적인 특징을 이해하고 접근해야 할 것이다.

• 환경생물
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• 제36권4호
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• pp.456-462
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• 2018

The purpose of this study was to assess cross-generational effects of bisphenol A exposure in benthic copepods, Tigriopus west. Nauplii (<24 hours old) were exposed to graded concentrations of bisphenol A, and toxicity end-points such as survival, development, sex ratio, and fecundity were measured. $F_1$ generations were grown under innoxious conditions, and similarly assessed. Significant differences were observed in development of nauplii and copepodites, between exposed and non-exposed copepods; however, there were no differences in survival of nauplii or copepodites, sex ratio, or brooding rate in parental generation. In contrast, in the $F_1$ generation, there were significant differences between the control group and exposed group in survival and development of nauplii. Length, width, and biomass of parental and $F_1$ generations were reduced in the exposed group compared to the control group. In addition, some deformities, such as swelling of the prosome, abnormally shaped egg sac, and dwarfism were observed after exposure to bisphenol A. So, our study demonstrates that a cross-generation toxicity test and monitoring of morphological deformities in harpacticoid copepods, can be useful for development of potential bioindicators for environmental monitoring, and assessment of chemical impact.

• Animal cells and systems
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• 제15권4호
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• pp.310-314
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• 2011

The Banna miniature pig (BNMP) is a representative miniature pig breed in China. Even though BNMP dwarfism is obvious, its underlying causative mutations remain unknown. In this study, the BNMP and Large White pig (LWP) serum growth hormone (GH) and insulin-like growth factor (IGF-1) levels were detected by ELISA and compared. BNMP serum IGF-1 levels were significantly lower than LWP levels (P<0.05). The miniature condition may arise from mutations in the GH and GH receptor (GHR) genes. Therefore, GH and GHR cDNA from the BNMP were cloned into a pMD18-T vector by RT-PCR using the total RNA obtained from the BNMP's pituitary and liver tissues. Sequencing results indicated that the open reading frame of the BNMP GH gene is composed of a 26-residue signal peptide and a 191-residue mature peptide. The coding sequence of the BNMP GHR gene contained 639 amino acids, including a signal peptide that is 18 amino acids long. Two amino acid substitutions, A09V and R22Q, were found in the signal peptide of the GH gene. Additionally, the S104P mutation was found in the BNMP's mature GH protein. Four mutations in the cytoplasmic domain of GHR may influence the downstream signal transduction of GHR, which needs further experimental evidence.

• 대한장애인치과학회지
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• 제6권1호
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• pp.10-14
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• 2010

본 증례에서는 비타민 D 저항성 구루병으로 진단받았으며, 가족력이 있었고, 작은 키, 휜 다리 등의 전신적인 증상을 보이는 환아의 구강 증상과 치료를 보고하였다. 특징적으로 구강 내에 심한 우식이 없는 치아에 다발성 치은 농양이 관찰되었고, 방사선학적으로 유치와 영구치에서 상아법랑경계까지 길게 뻗은 치수각, 얇은 상아질 및 확장된 치수 강이 관찰되었다. 이러한 비타민 D 저항성 구루병 환아에게는 치수 절제술 및 기성 금관 수복뿐만 아니라 더욱 더 적극적인 예방치료와 주기적인 검사가 필요할 것으로 사료된다.

• Ocean and Polar Research
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• 제32권4호
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• pp.369-377
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• 2010

To characterize ecotoxicological responses to a natural estrogen, $17{\beta}$-estradiol, we evaluated the life-history of the parental ($F_0$) and first generation ($F_1$) of the harpacticoid copepod, Tigriopus japonicus sensu lato. We evaluated the survival of nauplii and copepodites, the number of days until the emergence of copepodites and adult males, the sex ratio, brooding success, and the first brooding day of adult females. No significant differences in the survival rate were noted in response to treatments with different concentrations of $17{\beta}$-estradiol. However, $17{\beta}$-estradiol induced developmental delay and skewed the sex ratio toward males. Copepod development was delayed significantly in the 0.1 and $1\;{\mu}g\;l^{-1}$ $17{\beta}$-estradiol treatment groups relative to the control group, with a more pronounced delay in the $F_1$ group. Body length and biomass were significantly smaller in the $17{\beta}$-estradiol treated groups than in the controls. The male emergence of T. japonicus s.l. was very high in the 10 and $30\;{\mu}g\;l^{-1}$ $17{\beta}$-estradiol treatment group. Furthermore, exposure to $17{\beta}$-estradiol resulted in morphological deformities such as shrinking and swelling of the urosome, twisted setae of the caudal rami, setal loss of swimming legs, abnormal segmentation of antennules, and dwarfism.

• The Korean Journal of Pain
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• 제19권2호
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• pp.288-291
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• 2006

Epidural analgesia using an epidural catheter is an effective method to relieve the pain during the rehabilitating procedure for postoperative orthopedic patients. Total spinal anesthesia is one of the possible complications of epidural catheterization which can lead to a life-threatening condition. Achondroplasia is the most common form of short-limbed dwarfism resulting from a failure of endochondral bone formation. In patients suffering with short stature syndrome like achondroplasia, the incidence and risk of total spinal anesthesia during epidural anesthesia may increase because of the technical difficulty and structural anomaly of the spine. We report here on a 35-year old female patient with a height of a 115 cm. She was diagnosed as achondroplasia and she had a previous Ilizarov operation; both tibial lengthening and correction of valgus were done. No specific event occurred during epidural catheterization. Immediately after the injection of a test dose via epidural catheter, the patient became hypotensive, drowsy and showed weakness of both her upper and lower extremities. The symptoms were disappeared after 40 minutes. The catheter was removed on the next day. We concluded that the total spinal anesthesia was caused by intrathecal injection of local anesthetics through the epidural catheter, and the anesthesia then migrated into the subarachonoid space.

• Molecules and Cells
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• 제28권2호
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• pp.93-98
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• 2009

A plant-specific gene was cloned from melon fruit. This gene was named downward leaf curling (CmDLC) based on the phenotype of transgenic Arabidopsis plants overexpressing the gene. This expression level of this gene was especially upregulated during melon fruit enlargement. Overexpression of CmDLC in Arabidopsis resulted in dwarfism and narrow, epinastically curled leaves. These phenotypes were found to be caused by a reduction in cell number and cell size on the adaxial and abaxial sides of the epidermis, with a greater reduction on the abaxial side of the leaves. These phenotypic characteristics, combined with the more wavy morphology of epidermal cells in overexpression lines, indicate that CmDLC overexpression affects cell elongation and cell morphology. To investigate intracellular protein localization, a CmDLC-GFP fusion protein was made and expressed in onion epidermal cells. This protein was observed to be preferentially localized close to the cell membrane. Thus, we report here a new plant-specific gene that is localized to the cell membrane and that controls leaf cell number, size and morphology.

• Neonatal Medicine
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• 제17권1호
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• pp.141-146
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• 2010

영양위축성 형성이상은 드물게 발생하는 척추-골단-골중간 형성이상의 일종으로 진행성의 척추측후만증, 운동제한을 동반한 짧은 사지, 비교적 큰 손과 발, 큰 관절들의 비대 등을 특징으로 한다. 이 기형은 특징적인 임상소견과 방사선소견을 통해 진단할 수 있다. 이 기형은 양성 경과를 보인 다수의 증례들이 보고되어 왔고, 소수에서 치명적인 경과를 보이는 증례도 보고되었다. 저자들은 치사성의 영양위축성 형성이상 1례를 경험하였기에 보고하는 바이다.

• 생명과학회지
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• 제8권1호
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• pp.8-13
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• 1998

옥수수의 미토콘드리아 변이체(NGS2)는 전자전달계 내의 NADH dehydrogenase를 구성하고 있는 subunit 4와 7 유전자의 재조합에 의해서 생성된 변이체이다. 이들의 변이체들은 식물의 성장과 발육에 절대적인 영양을 미치며, 또한 기내에서의 callus line들의 생성과 발달에도 상당한 영향을 미친다. 이들의 미토콘드리아 mutant 들은 3개의 primer를 사용하는 PCR 방법에 의해서 쉽게 선별이 가능하며, 세포 내의 키토콘드리아 변이 정도를 간접적으로 추측케 하며, 체시포 분열시 세포질 내의 기관들이 random으로 분리되는 현상을 간법적으로 알 수 있다. NGS2 mutant들에서 유기된callus line들은 식물체 재문화에도 영향을 미쳐 murant 미토콘드리아가 많은 call line들에슨 실질적인 부정 줄기의 유기를 방해하는 것으로 사료된다. 결론적으로 NADH-dehydrogenase는 식물체가 재분화 또는 성장하는데 있엇 필요한 요소라고 생각된다.

• 통합자연과학논문집
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• 제4권2호
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• pp.113-120
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• 2011

Brassinosteroids (BRs) are plant steroid hormones that play essential roles in growth and development. Mutations in BR-signaling pathways cause defective in growth and development like dwarfism, male sterility, abnormal vascular development and photomorphogenesis. Transition from vegetative to reproductive growth is a critical phase change in the development of a flowering plant. In a screen of activation-tagged Arabidopsis, we identified a mutant named abz126 that displayed longer hypocotyls when grown in the dark on MS media containing brassinazole (Brz), an inhibitor of BRs biosynthesis. We have cloned the mutant locus using adapter ligation PCR walking and identified that a single T-DNA had been integrated into the ninth exon of the GIGANTEA (GI) gene, involved in controling flowering time. This insertion resulted in loss-of-function of the GI gene and caused the following phenotypes: long petioles, tall plant height, many rosette leaves and late flowering. RT-PCR assays on abz126 mutant showed that the T-DNA insertion in GIGANTEA led to the loss of mRNA expression of the GI gene. In the hormone dose response assay, abz126 mutant showed: 1) an insensitivity to paclobutrazole (PAC), 2) an altered response with 6-benzylaminopurine (BAP) and 3) insensitive to Brassinolide (BL). Based on these results, we propose that the late flowering and tall phenotypes displayed by the abz126 mutant are caused by a loss-of-function of the GI gene associated with brassinosteroid hormone signaling.