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Clinical and Genetic Findings in Korean Patients with Choroideremia
Woo Gyeong Jo,Christopher Seungkyu Lee,Jinu Han 대한안과학회 2023 Korean Journal of Ophthalmology Vol.37 No.4
Purpose: We share and analyze the clinical presentations and genotypes of Korean male patients and female carriers who visited our clinic. Methods: Six male patients and three female carriers with comprehensive ophthalmic examinations and next-generation sequencing were included. Detailed clinical features were identified using visual field (VF) test and multimodal imaging including color fundus photography, fundus autofluorescence (FAF), and optical coherence tomography (OCT). Results: Six male patients were diagnosed with choroideremia at the median age of 25 years. Before genetic testing, three patients (50.0%) were clinically diagnosed with choroideremia, while the other three patients (50.0%) with retinitis pigmentosa. Patients showed different types of hemizygous CHM variants, including two nonsense variants, c.715C>T:p.(Arg239*) and c.799C>T:p.(Arg267*); two frameshift variants, c.1584_1587del:p.(Val529Hisfs*7) and c.403_404del:p.(Asp135Phefs*9); one splicing variant c.1511-28_1511-2del; and one exon 2-8 duplication. The latter three variants were novel. Two female carriers had heterozygous exon 2-8 duplication and the other one female carrier had heterozygous nonsense variant c.715C>T:p. (Arg239*). Fundus showed diffuse yellow-whitish scleral reflex and granular pigmented lesions. FAF showed multiple patchy hypofluorescence lesions, sparing macula. OCT showed thinning of outer nuclear layer, ellipsoid zone, retinal pigment epithelium layer, choroid thickness, interlaminar bridges, outer retinal tubulations, and microcysts in the inner nuclear layer. VF showed ring scotoma pattern with small amount of remaining central field. Asymptomatic female carriers showed variable fundus findings and mild changes in OCT. Conclusions: A detailed description of the genotypes with three novel mutations and phenotypes of six choroideremia patients and three CHM mutation female carriers are presented.
Development of humanized immune mouse model to study cancer immunotherapies and other diseases
Chan Woo Kim,Jiyeong Bae Bae,Chanyoung Song,Hye Lim Lee,Jung Hyu Shin,Gyeong Seok Jo,Eun Hee Kim 한국실험동물학회 2021 한국실험동물학회 학술발표대회 논문집 Vol.2021 No.7
Cancer immunotherapy is a revolutionizing treatment that stimulates human immune system to suppress cancer growth. It has been showed successful clinical responses but only in a minority of patients and certain cancers. Thus, there is an urgent need for predictive preclinical models to drive rational immunotherapeutic drug development due to poor outcomes is that current preclinical models do not fully recapitulate the physiological mechanism underlying human diseases. During the past decade, humanized mouse model has been developed by the establishment of novel platforms of genetically modified immunodeficiency mice. Humanized immune mouse are immunodeficiency mice (NSG [NOD-scid IL2Rgammanull] or NOG [NOD/Shi-scid IL2rγnull]) that have been engrafted with functional human tissues or cells and support clinically relevant in vivo studies of human cells, tissues and immune systems. Here, we developed humanized immune mouse model through engrafting of hematopoietic stem cell (CD34+ HSC) and peripheral blood mononuclear cells (PBMC) to study antitumor efficacy of cancer immunotherapy that can be performed with human cancer cells within mice bearing components of a human immune system. Furthermore, recent studies showed that humanized mice are permitting significant progress in studies of human infectious disease, cancer, regenerative medicine, graft-versus-host disease, allergies, and immunity. Collectively, humanized immune mouse models can be used for further development of personalized precision medicines and more precise platform to evaluate the efficacy and safety of pre-clinical drugs, simulate the interaction between patients’ tumor and immune system and predict patients’ response to the treatment.
조제경(Jo Je-Gyeong),서종원(Seo Jong-Won),이형우(Lee Hyung-Woo) 한국콘텐츠학회 2006 한국콘텐츠학회 종합학술대회 논문집 Vol.4 No.2
현재 인터넷 상에서 수많은 멀티미디어들이 쏟아져 나오고 있다. 그로 인해 멀티미디어 서비스의 기술이 점점 발전해가며 그에 따라 멀티미디어의 불법 복제 또한 발달하였다. 기존의 ID와 Password를 입력하여 로그인 하던 시스템에서 수많은 해킹이 이루어졌으며 자신도 모르는 사이 자신의 아이디로 가입이 되고 결제가 되어 멀티미디어를 이용하고 있는 경우가 많아지고 있다. 이러한 많은 해킹의 위험으로부터 멀티미디어를 보호해야 할 필요가 있으며 그로 인해 현재 수많은 발달과 관심이 쏟아지는 바이오 인식을 이용하여 멀티미디어 서비스를 한 차원 더 발전시키고자 한다.
Estrogen activity of Silkworm (Bombyx mori) Pupa water extract and its fractions
유재성,Gyeong-Jong Jo,Jung-woo Jin,Hyo-Jung Yang,박용일,Ye-Seul Na,Kyung-Su Nam,Kyung-Soo Keum,Young-Kug Choo 경희대학교 융합한의과학연구소 2008 Oriental Pharmacy and Experimental Medicine Vol.8 No.3
This study was conducted to evaluate the estrogen activity of silkworm (Bombyx mori) pupa extracts and their fractions. Powdered samples of freeze-dried silkworm pupa were extracted at room temperature (RT), 40 ºC, 60 ºC, 80 ºC, and 100 ºC in water (D.W), chloroform, ethyl acetate, and methanol for 6h and then filtered (0.45 um). The extracts were then freeze-dried. The estrogenic activity of these extracts was then investigated by competition binding assays using estrogen receptor α (ERα) and ERβ, and by evaluating their effects on the proliferation of the human breast cancer cell line, MCF-7. Among the extracts evaluated, water extracts prepared at RT showed the highest binding affinity to ERα (IC50, 1.76 ug/ml) and ERβ (IC50, 0.07 ug/ml). In addition, MCF-7 cells that were treated with 62.5 ug/ml of the RT extract showed the greatest increase in proliferation (2-fold; 1291.79%) when compared to control cells (659.82%). Next, the water extract that was prepared at RT (sample 1) was dissolved in D.W. and further fractionated using a Dowex 50W - 8X (H+) column. The flow-through and wash were then pooled together and freeze-dried (sample 2). The bound materials were then eluted with 20 mM NaCl, after which they were applied to a Dowex 1X2 - 200 (Cl-) column and washed with D.W. to remove the sodium ions. The eluants were then freeze-dried (sample 3). Of these fractions, sample 2 showed the highest binding affinity to ERα (IC50, 1.44 ug/ml) and ERβ (IC50, 1.18 ug/ml). In addition, MCF-7 cells that were treated with sample 2 (15.6 ug/ml) showed the largest increase in growth (1159.39%) when compared to control cells (525.26%). Taken together, these results suggest that the fraction of the RT water extract of silkworm pupa referred to as sample 2 may be useful as a phytoestrogen.
Byeon, Gyeong-Jo,Kim, Eun-Jung,Yoon, Ji-Young,Yoon, Seok-Hyun,Woo, Mi-Na,Kim, Cheul-Hong The Korean Dental Society of Anesthsiology 2015 Journal of Dental Anesthesia and Pain Medicine Vol.15 No.1
Vascular injury caused by a central venous catheter (CVC) has been reported to be a rare complication, especially delayed vascular injury due to CVC has a few cases and it can be fatal because of delayed recognition and more serious complications. A 59-year-old woman with no available medical history was admitted for treatment of ovarian cancer. For the surgery, a triple-lumen CVC was placed through the left subclavian vein. Parenteral nutrition through the CVC was used for postoperative nutritional management in the first postoperative day. On the sixth postoperative day (POD), the patient suddenly complained of dyspnea. The CT revealed bilateral pleural effusion and irregular soft tissue density and air bubble in anterior mediastinum suggesting migration of the distal portion of the CVC into the anterior mediastium. In the intensive care unit (ICU) bilateral thoracentesis and percutaneous drainage were performed. She was discharged from the ICU in 3 days later and transferred to the general ward. This case emphasizes the possibility of the delayed vascular injury related to CVC and some strategies for prevention of vascular injury.