• Journal of Genetic Medicine
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• 제12권1호
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• pp.57-60
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• 2015

CHARGE syndrome (coloboma, heart defects, atresia choanae, retarded growth and development, genital hypoplasia, and ear abnormalities) is characterized by multiple malformations and is diagnosed using distinct consensus criteria. Mutations in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7) are the major cause of CHARGE syndrome. Clinical features of CHARGE syndrome considerably overlap those of 22q11.2 deletion syndrome. Of these features, immunodeficiency and hypocalcemia are frequently reported in patients with 22q11.2 deletion syndrome but are rarely reported in patients with CHARGE syndrome. In this report, we have described the case of a patient with typical phenotypes of 22q11.2 deletion syndrome but without the proven chromosome microdeletion. Mutation analysis of CHD7 identified a pathogenic mutation (c.2238+1G>A) in this patient. To our knowledge, this is the first case of CHARGE syndrome with immunodeficiency and hypocalcemia in Korea. Our observations suggest that mutation analysis of CHD7 should be performed for patients showing the typical phenotypes of 22q11.2 deletion syndrome but lacking the proven chromosome microdeletion.

• 한국임상수의학회지
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• 제30권2호
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• pp.100-106
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• 2013

A clinical trial was performed to assess clinical efficacy and/or reduction in relapses by gold-bead implantation into acupuncture points in dogs with canine chronic recurrent otitis externa (CCROE). Forty dog-patients randomly divided into two groups were diagnosed as suffering CCROE, having intact tympanic membranes and a history of recurrences. Treatments were: control group (CG), treated with commercially available antimicrobial otic droplets, dosed twice daily for 7 days; and experimental group (GBI- gold bead implants), treated as for CG plus the insertion of 13 gold-bead implants under light anesthesia. Overall per cent assessment of composite clinical progression and progression of individual clinical signs were recorded. Bilateral chronic external otitis was diagnosed in 60% of the cases and left or right otitis in 20% of the cases each. Logistic model for repeated measures analysis showed that GBI induced a better clinical recovery as far as lesion score of some clinical signs is concerned. The overall percent cures of each group showed statistically significant difference. A McNemar analysis revealed that higher number of relapses was observed in CG patients as compared to the GBI (P < 0.05). In particular during these days, lesion on the pinna showed in odd ratios analysis a 7:1 ratio (recurrence CG:GBI) and ear wax/pus (4:1) from D42 to D365. It is concluded that gold-bead implantation into acupuncture points improves resolution of some clinical signs and greatly reduce relapses in CCROE affected dogs after 1 year follow-up (98.75%).

• 한국토양비료학회지
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• 제7권1호
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• pp.55-64
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• 1974

가리추비(加里追肥)의 영양학적(營養學的) 해명(解明)으로 수경조건(水耕條件)에서 생육기별(生育期別) 2 또는 3 주간(週間)의 가리(加里) 결제(缺除)가 수도(水稻)의 가리(加里) 및 기타 영양(營養)에 미치는 효과(效果)를 진흥(振興)과 IR 667 일차원(一水原) 214를 사용(使用) 조사(調査)하였다. 가리함량(加里含量), 부위간(部位間) 가리비율(加里比率), 상대가리함량(相對加里含量) $-K/+K{\times}100$) 및 가리(加里)와 타양분간(他養分間)의 균형(均衡) (K/N 및 K/Ca+Mg)에 의(依)하여 다음 결론(結論)을 얻었다. 1) 수도(水稻)는 가리결핍(加里缺乏)에 가장 민감(敏感)한 세 시기(時期)를 갖으며 그 순(順)은 유수형성기(幼穗形成期)(출수전(出穗前) 20~30일(日)) 분(分)얼 초기(初期)(이앙후(移秧後) 15~25일(日))와 출수기(出穗期)이다. 2) IR 667은 진흥(振興)보다 가리결핍(加里缺乏)에 민감(敏感)하며 가리흡수(加里吸收)의 저하(低下)로 특(特)히 생육초기(生育初期)에 심(甚)하다. 3) IR667의 엽초는 진흥(振興)에서 보다 가리장저(加里藏貯)의 역할(役割)이 큰것같다.

• 식품산업과 영양
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• 제9권1호
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• pp.36-45
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• 2004

Bamboo salt has been used for the purpose of prevention and treatment of various diseases in Korea. Present study was carried out to ascertain the effects of purple bamboo salt upon anti-allergic effect, anti-inflammatory activity and immune-enhance effect as well. Purple bamboo salt significantly inhibited the ear swelling response and histamine release induced by compound 48/80 in mice and rat peritoneal mast cells. Purple bamboo salt (0.01 ∼ lg/kg) also dose-dependently inhibited the passive cutaneous anaphylaxis by oral administration. Purple bamboo salt (1 mg/mL) in hibited phorbol 12-myristate 13-acetate plus calcium ionophore A23187-stimulated tumor necrosis factor (TNF)-${\alpha}$, interleukin (IL)-1${\beta}$ and IL-6 secretion, by 67.04${\pm}$0.08%, 68.01${\pm}$1.85%, 69.48${\pm}$0.54%, respectively. In addition, purple bamboo salt inhibited the expression of TNF-${\alpha}$ mRNA in HMC-1 cells. Finally, we investigated the effect of purple bamboo salt in the forced swimming test (FST) and the change of purple bamboo salt-mediated cytokine production from MOLT-4 cells. At the 7th, immobility time was significantly decreased in the purple bamboo salt-administration group (35.4 ${\pm}$5.9 s for 1 g/kg) in comparison with the control group (93.2 ${\pm}$ 15.45). After FST, the content of glucose in the blood serum was increased and the levels of blood urea nitrogen, lactic dehydrogenase was decreased in purple bamboo salt-administration group. However, it had no effect on the elevation of CK and TP level. Purple bamboo salt (1 mg/mL) significantly increased the interferon (IFN)-${\gamma}$ and IL-2 level compared with media control (about 3.7-fold for IFN-${\gamma}$, about 3.5-fold for IL-2, p〈0.05) but did not affect the IL-4.

• Advances in Traditional Medicine
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• 제9권2호
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• pp.115-127
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• 2009

Samsoeum (SSE) is used in traditional oriental medicine for various medicinal purposes. However, the exact mechanism that accounts for the anti-allergy and anti-inflammatory effects of the SSE is still not fully understood. The aim of the present study is to elucidate whether and how SSE modulates the allergic reactions in vivo, and inflammatory reaction in vitro. In this study, we showed that SSE significantly decreased compound 48/80-induced systemic anaphylaxis, ear-swelling response, histamine release from preparation of rat peritoneal mast cells and anti-dinitropheny IgE-induced passive cutaneous reaction. Also, SSE inhibited the expression of inflammatory cytokine and cyclooxygenase-2 in PMA plus A23187-stimulated human mast cells (HMC-1). In addition, we showed that anti-inflammatory mechanism of SSE is through suppression of nuclear factor-${\kappa}B$ activation and $I{\kappa}B-{\alpha}$ phosphorylation/degradation in HMC-1. These results provided new insight into the pharmacological actions of SSE as a potential molecule for therapy of inflammatory allergic diseases.

• Reproductive and Developmental Biology
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• 제28권1호
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• pp.13-20
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• 2004

This study was conducted to investigate the developmental ability of caprine embryos after somatic cell interspecies nuclear transfer. Donor cells were obtained from an ear-skin biopsy of a caprine, digested with 0.25% trypsin-EDTA in PBS, and primary fibroblast cultures were established in TCM-199 with 10% FBS. After maturation, expanded cumulus cells were removed by vigorous pipetting in the presence of 0.3% hyaluronidase. The matured oocytes were dipped in D-PBS plus 10% FBS＋7.5 $\mu\textrm{g}$/ml cytochalasin B and 0.05 M sucrose. The reconstructed oocytes were electrically fused with donor cells in 0.3 M mannitol fusion medium. After the electofusion, embryos were activated by electric stimulation. Interspecies nuclear transfer embryos with bovine cytoplasts were cultured in TCM-199 medium supplemented with 10% FBS including bovine oviduct epithelial cells for 7∼9 day. On the other hand, the NT embryos with porcine cytoplasts were cultured in NCSU-23 medium supplemented with 10% FBS for 6∼8 day at $39^{\circ}C, 5% CO_2$ in air. In caprine-bovine NT embryos, the cleavage(2-cell) rate was 36.8% in confluence and 43.8% in serum starvation. The developmental rate of morula- and blastocyst-stage embryos was 0.0% in confluence and 18.8% in serum starvation. In caprine-porcine NT embryos, the cleavage(2-cell) rate was 76.7% in confluence and 66.7% in serum starvation. The developmental rate of morula and blastocyst stage embryos was 3.3% in confluence and 3.0% in serum starvation, and no significant difference was observed in synchronization treatment between donor cells. In caprine-bovine NT embryos, the cleavage(2-cell) rate of cultured donor cells was 30.8% and 17.6% in 5∼9 and 10∼14 passage(P＜0.05). The developmental rate of morula and blastocyst stage embryos were significantly higher(P＜0.05) in 5∼9 passage(23.1%) than in 10∼14 passage(0.0%) of cultured donor cells. In caprine-porcine NT embryos, the cleavage rate was significantly higher(P＜0.05) in 5∼9 passage(86.7%) than in 10∼14 passage(50.0%) of cultured donor cells. The developmental rate of morula and blastocyst stage embryos were 3.3 and 0.0% in 5∼9 and 10∼14와 passage of cultured donor cells. In caprine-bovine NT embryos, the developmental rate of morula and blastocyst stage embryos were 22.6% in interspecies nuclear transfer, 33.9% in in vitro fertilization and 28.1% in parthenotes, which was no significant differed. The developmental rate of morula and blastocyst stage embryos with caprine-porcine NT embryos were lower(P＜0.05) in interspecies nuclear transfer(5.1%) than in vitro fertiltzation(26.9%) and parthenotes(37.4%).

• Reproductive and Developmental Biology
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• 제28권1호
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• pp.21-27
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• 2004

본 연구는 이종간 핵이식란의 생산성 향상에 기여하기 위한 기초연구로서 핵이식 수정란의 융합과 활성화 과정에 있어서 수핵난자 및 전기적 융합조건이 핵이식 수정란의 융합 및 체외 발달에 미치는 요인들을 조사하기 위하여 실시하였다. 도축되어지는 소 및 돼지의 난소에서 난포란을 채취하여 TCM-199 및 NCSU-23에 혈청 및 호르몬을 첨가하여 39$^{\circ}C$, 5% CO$_2$ 배양기내에서 24 및 48시간 체외성숙을 실시하여 수핵난자를 준비하고, 공여세포의 준비는 산양의 귀세포를 채취하여 0.25% Trypsin-EDTA의 처리로 세포를 분리, 배양하여 사용하였으며, 계대배양과 함께 세포는 TCM-199 ＋ 10% FBS ＋ 10% DMSO로 동결을 실시하였다. 핵이식은 성숙된 난자의 극체 및 전핵을 laser system으로 투명대를 drilling 하여 제거하고 준비된 공여세포를 핵이 제거된 난자에 주입하여 전기적 자극으로 융합을 실시하여 융합된 난자는 전기적 자극으로 활성화를 유도하였다. 활성화가 이루어진 복제 수정란은 수핵란이 소난자의 경우 monolayer가 형성된 10% FBS가 첨가된 TCM199 배양액에서 7∼9일 동안 체외배양하였으며, 수핵란이 돼지의 경우 10% FBS가 첨가된 NCSU-3 배양액으로 6∼8일 동안 체외배양을 실시하여 배반포기로 유도하였다. 본 연구에서 얻은 결과를 요약하면 다음과 같다. 전기자극의 세기를 1.95 kv/cm와 2.10 kv/cm로 주었을 때 수핵란이 소 난자의 경우 융합율은 47.7및 44.6%였으며, 분할율도 41.9 및 54.5%로써 차이가 없었다. 수핵란이 돼지 난자인 경우는 융합율은 51.3 및 46.1%로써 차이가 없었으며, 분할율도 75.0및 84.9%로써 차이가 없었다. 전기자극 시간을 30 또는 60${\mu}$sec, 횟수는 1 또는 2회 주었을 때 수핵란이 소 난자의 경우 융합율은 30 ${\mu}$sec 1회(50.8%) 와 2회(31.0%) 간에 차이가 없었으나, 60${\mu}$sec 1회(19.3%)가 가장 낮았다(P＜0.05). 융합란의 분할율은 30${\mu}$sec 1회(53.3%)와 2회(50.0%) 간에 차이가 없었으나, 60${\mu}$sec 1회(18.2%)보다 유의적(P＜0.05)으로 높게 나타났다. 돼지 난자의 경우 융합율은 30${\mu}$sec 1회(48.1%), 2회(45.2%)및 60${\mu}$sec 1회(48.6%)간에 차이가 없었으며, 분할율은 30${\mu}$sec 1회(78.4%)와 60${\mu}$sec 1회 (79.4%)간에 차이가 없었으나, 30${\mu}$sec 2회(53.6%)보다 유의적(P＜0.05)으로 높게 나타났다. 이종간 핵이식란의 체외발달에 있어서 수핵란이 소 난자의 경우 상실배와 배반포기로의 발달율이 22.6%로써 단위발생란 30.6%와 차이가 없었으며, 돼지 난자의 경우는 이종간 핵이식란이 5.1%로써 단위발생란 37.4%보다 유의적(P＜0.05)으로 낮게 나타났다. 이상의 실험결과로 보아 산양의 체세포를 이용한 이종간 핵이식 복제수정란의 생산을 위하여 수핵란으로 소와 돼지를 사용하여 복제수정란의 발달을 확인할 수 있었으며, 이종간 핵이식에 있어서 수핵란, 공여세포, 융합, 활성화 및 배양조건 등 아직 초보 수준에 있으며, 앞으로 보다 많은 연구를 통하여 이러한 문제들이 해결되면 멸종위기 상태에 있는 동물들의 종 보존에도 활용이 가능할 것으로 생각된다.