유전의료시대의 맞춤의학

"Personalized medicine" for better clinical care by application of genomic information of individual patients will be a global challenge for 21 century of "genomic era" esp. in Korea where provision of clinical genetic service is inadequate even for existing currant demand. Genomics based knowledge and tools can make possible to approach each patient as unique biological individual and to lead the change of paradigm of medical practice towards predictive. With advancement of genomics, many genetic tests not only for rare single gene disease but also common multifactorial disease, including suseptability genetic test for presymtomatic individual and genetic test for drug response become widely available and personalized medicine will face the challenge assisting patients to make appropriate, wise use of genetic risk assessment. Therefore a major challenge of genomic medicine lies in understanding and communicating disease risk in order to facilitate and support the pts and their family in informed decision making. Thus, establishment of Health Care system with provision of genetic counseling as an integral part of health care service, in addition to genomic literacy of health care providers is vital to meet the challenge. The promise of personalized medicine in the era of genomics for improvement of health care, can yet to be realized depending upon not only further development of next generation sequencing technology and affordable sequencing test cost, but also the readiness of educated medical community with clinical practice guidelines of genetic counseling for genetic testing and policy development concerning ethical, legal and social issues of genomic medicine

유전상담의 제도적인 고찰

Unprecedented amount of genetic information being generated from the result of Human Genome Project (HGP) and advances in genetic research is already forcing changes in the paradigm of health and disease. The ultimate goal of genetic medicine is to use genetic information and technology to develop new ways of treatment or even prevention of the disease on an individual level for ’personalized medicine’. Genetics is playing an increasingly important role in the diagnosis, monitoring and management of common multifactorial diseases in addition to rare single-gene disorders. While wide range of genetic testing have provided benefits to patients and family, uncertainties surrounding test interpretation, the current lack of available medical options for the diseases, and risks for discrimination and social stigmatization may remain to be resolved. However an increasing number of genetic tests are becoming commercially available, including direct to consumer genetic testing, yet public is often unaware of their clinical and social implications. The personal nature of information generated by a genetic test, its power to affect major life decisions and family members, and its potential misuse raise important ethical considerations. Therefore appropriate genetic counseling is needed for patient to be informed with the benefits, limitations and risks of genetic tests, prior to informed consent for the tests. Physician also should be familiar with the legal and ethical issues involved in genetic testing to tell patients how well a particular genetic risk factor relates with likelihood of disease, and be able to provide appropriate genetic counseling. Genetic counseling become a mandatory requirement as global standard for many genetic testing such as prenatal diagnosis, presymtomatic DNA diagnostic tests and cancer susceptibility gene test for familial cancer syndrome. In oder to meet the challenge of genetic medicine of 21 century in korean health care system, professional education program and certification board for medical genetics specialist including non-MD genetic counselors should be addressed by medical society and regulatory policy of national health insurance reimbursement for genetic counseling to be in place to promote the implementation of clinical genetic service including genetic counseling for proper genetic testing

분자유전검사로 확진된 한국인 고셔병 환자의 눈 이상

목적: 한국인에서의 고셔병 환자의 눈 이상에 대하여 알아보고자 하였다. 대상과 방법: 2007년부터 2008년까지 아주대학교병원 유전학 클리닉에서 고셔병으로 확진한 후 분당서울대학교병원 안과로 의뢰한 고셔병 환자 5명의 의무기록을 후향적으로 조사하였다. 결과: 5명의 3형 고셔병 환자 모두에서 간비장비대, 눈돌림실행증이 있었으며 4명의 환자에서 성장발육과 발달지연이 있었다. 유전자 형은 L444P가 가장 흔하였으며, 그밖에 P201H, F2131, R257Q, D315E+Rec 1b가 발견되었다. 5명 모두에서 외전장애와 눈돌림실행증 이 있었고 이중 4명에서 내사시가 관찰되었다. 외전장애, 눈돌림실행증 및 내사시가 모두 있는 4명 중 3명에서는 성장발육지연 및 발달지연이 있었다. 결론: 의뢰된 고셔병 환자의 대부분에서 외전장애, 눈돌림실행증과 내사시를 보였다. 외전장애, 눈돌림실행증 및 내사시를 보이는 경우 고셔병을 확인할 필요가 있겠으며, 고셔병의 임상 유형 및 예후를 결정하는데 안과검진이 필수적이다.Purpose: To investigate the ophthalmologic manifestations of Korean patients with Gaucher disease. Methods: Clinical records of 5 patients who were referred to the pediatric ophthalmology clinic of Seoul National University Bundang Hospital after diagnosis of Gaucher disease at the genetics clinic of Ajou University Hospital between 2007 and 2008 were retrospectively reviewed. Results: Five patients with type 3 Gaucher disease had hepatosplenomegaly and oculomotor apraxia, and 4 patients had growth and developmental delay. The most commonly detected genetic mutation was L444P. In addition, P201H, F2131, R257Q, and D315E+Rec 1b were identified. Five patients had oculomotor apraxia and limitation of abduction, and 4 patients had esotropia. One of the 4 patients who showed combined limitation of abduction, oculomotor apraxia, and esotropia, yet did not have growth and developmental delay. Conclusions: Most of the patients who were referred for ocular motor abnormalities with Gaucher disease showed a limitation of abduction, oculomotor apraxia, and esotropia. In patients with a limitation of abduction, oculomotor apraxia, and esotropia, Gaucher disease should be considered. Ophthalmologic examination is essential for subtyping and prognosing Gaucher disease

동종조혈모세포이식 한 재생불량빈혈 환자의 거대세포바이러스 감염에 의한 장기종

A 10-year old girl diagnosed as severe aplastic anemia was transplanted with peripheral stem cells from a CMV seropositive full matched unrelated donor. The conditioning regi-men consisted of busulfan, fludarabine, and anti-thymocyte globulin (ATG). At D+114, abdominal pain, fever, and blood-tinged watery diarrhea developed. At D+116, pneuma-tosis intestinalis (PI) was detected on simple abdominal X-ray and computed tomography (CT). Ganciclovir was started intravenously because CMV antigenemia was detected at D+117. Two days later, PI sign disappeared on simple abdominal X-ray, and hema-tochezia began to decrease. CMV antigenemia disappeared 10 days after starting ganciclovir. We describe a 10-year old girl with severe aplastic anemia who developed PI in the presence of CMV infection and gastro-intestinal graft-versus-host-disease (GVHD) after allogeneic stem cell transplantation and was treated successfully with ganciclovir

지르코니아제 지대주를 이용한 임프란트 심미수복

Anterior maxillary area is called “esthetic zone”. Sometimes in implant restoration, metal abutments can make tissue discoloration on the cervical area. Zirconia abutment is an alternative for the use in esthetic zone because it doesn't cause tissue discoloration. This article describes four cases where zirconia abutments were used in anterior maxillary area with allceramic restorations. Though one case suffered the fracture of all-ceramic restoration, three of the four cases had good esthetic and functional results

고지혈증 환자에서 Atorvastatin (Lipitor±)의 혈청지질 강하 효과

Background : Recently, the incidence of cardiovascular diseases has increased in Korea. Hypercho-lesterolemia is a major risk factor for cardiovascular diseases. Atorvastatin (Lipitor±) is prescribed for the treatment of hyperlipidemia in Korea, but its effect has not been studied. Therefore, we investigated the lipid lowering effect of atorvastatin in Koreans. Methods : This study included 82 hypercholesterolemic patients who visited the Department of Family Practice of Ajou University Hospital from January 1, 2000 to December 31, 2001. The mean age of the subjects was 47.8 years in the range of 27 to 66 years. Our study included 41 controls and 41 subjects who were administered atorvastatin 20 mg daily for 3 months. Fasting serum lipid levels were measured at baseline and at 3 months. Specific dietary and exercise interventions were not instructed. Results : At 3 months, the serum total cholesterol and LDL were significantly lower in atorvastatin group than in the control group (Total cholesterol; -5.5±16.7%, vs 25.5±15.8%, P＜0.05, LDL cholesterol; 1.4±28.5%, vs -30.1±28.9%, P＜0.05). The serum triglyceride in atorvastain group showed no significant difference relative to the controls (Control: -5.8±34.2%, Atorvastatin: -3.5±54.8%, P=0.81). But, Serum triglyceride level decreased by -14.3±33.2% in the control and -39.0±23.2% in the atorvastatin group among the patients whose baseline triglyceride level was over 200 mg/dl (P＜0.05). There was no significant differences in HDL-cholesterol (Control: 3.0±22.6%, Atorvastatin: -0.9±18.8%, P=0.38). The effect of atorvastatin was not influenced by age, sex, BMI and other risk factors. Conclusion : Atorvastatin lowered significantly the serum total cholesterol, LDL and triglycerides in Korea. Regardless of age, sex, BMI, but had no effect on HDL level

건강검진에서 증가된 전립선특이항원(PSA)의 임상적 의의

Background : As prostate cancer in men is increasing in Korea, the need for early detection by mass screening has become an important issue. Screening tests for early detection of prostate cancer are digital rectal examination, transrectal ultrasonography (TRUS) and prostate specific antigen (PSA) test. PSA test has been mainly used for prostate cancer screening in health promotion centers. However, PSA has a high sensitivity but low specificity. Therefore, PSA concentration can be increased not only in prostate cancer, but also in several benign prostate diseases such as benign prostate hyperplasia (BPH), prostatitis, and prostate ischemia. Also, PSA concentration can increase in the elderly. Therefore, we investigated the results of follow-up PSA tests, in the cases of increased PSA concentration on screening. Methods : In 538 cases, the PSA concentration were increased over 2.5 ng/ml among total 17,302 males checked up on screening test at Ajou University Hospital from January 1999 to December 2001. Two hundred and four cases followed up with TRUS or prostate biopsy were chosen. We investigated 89 cases who performed follow- up PSA test. On the basis of the results of biopsy or TRUS, the subjects were classified into non-disease group, benign prostate disease group and prostate cancer group (possible or confirmed prostate cancer group). Results : The mean age of non-disease group was 35.5 5.9 years, which was significantly lower than that of benign prostate disease group and prostate cancer group (P＜0.05). Compared to the mean age of prostate cancer group (60.6 10.4 years) and non-prostate cancer group (53.1 12.3 years), prostate cancer group was significantly older than non prostate cancer group (P=0.005). When the lower limit of age was set to 40 years (mean-2SD), confirmed prostate cancer group was significantly older than other groups (p＜0.001). The PSA concentration of confirmed prostate cancer group (11.33 7.58 ng/ml) was significantly higher than that of non-prostate disease group (4.35 2.22 ng/ml) and possible prostate cancer group (4.44 2.29 ng/ml) (P＜0.05). The follow-up PSA level of confirmed prostate cancer group (10.13 6.13 ng/ml) was significantly higher than that of non-prostate disease group (2.55 0.97 ng/ml), BPH group (4.33 3.80 ng/ml), prostatitis group (3.61 2.17 ng/ml), prostate cyst group (3.00 1.86 ng/ml) and possible prostate cancer group (3.81 2.82 ng/ml) (P＜0.05). Conclusion : It is recommended that screening test for prostate cancer be performed after the age of 40. While follow-up PSA test is needed when the PSA is increased up to less than 10 ng/ml, prostate biopsy may be desired in the PSA value of 10.0 ng/ml or greater

명사구메 있어사 「の」 외 「의」 에 대한 일・한 대조연구 : 말뭉치를 흴용한 「지명+N」 의 의미 분류를 중심으로

최근　정보기술의　발전과　말믕치의　활발해짐에　따라대조분석의　언어자료도　양작　봑대와　질적　성장을　거듭하고　있다．본　연구는　말뭉치를　바탕으로　‘N1+N2’의　명사구를　형성하는　데관여하는　한국어의　관형격　조사‘의’와　일본어의　연체격조사‘の’에　대해　대조언어학적　관점에서　분석한　것이다．그간‘의’외‘の’에　대한　대조본석은　꾸준히　이루어져　왔으나　N1을　지명으로　한정하여　N2의　의미　부류에　따라　두　조사를　비교하는　데　초점을　둔　연구는　거의　전무한　실정이다．따라서　본고에서는　선행연구의　문제점을　감토한　후　‘지명+의/の+　N2’에　관한　8가지　의미　유형을　제시하고　‘의’ 와‘の’ 의　용법에　관한　유서점과　상이점을　체계적으로　정리하였다．본　연구의　성과가　외국어　교육에　유용한　정보로　활용되기를　기대한다．departmental bulletin pape

혈청병 양상을 나타낸 벌독 알레르기 1예

Anaphylaxis is the most common systemic allergic reaction caused by bee stings. Delayed-type allergic reactions, including serum sickness, occur much less frequently. We report a 27-year-old man who developed serum sickness reaction nine days after multiple bee-stings. He had complained of erythematous skin rash, fever, arthralgia, myalgia and proteinuria. High specific IgE to bee venoms (honeybee, yellow jacket, yellow hornet) were observed by CAP system and C3, C4 and circulating immune complex levels measured by C1q binding assay showed normal values. We report a case of serum sickness reaction caused by multiple bee stings