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Mutation Analysis of the TGFBI Gene in Consecutive Korean Patients With Corneal Dystrophies
송주선,기창석,임동희,정의상,정태영 대한진단검사의학회 2015 Annals of Laboratory Medicine Vol.35 No.3
Background: Mutations in the transforming growth factor β-induced gene (TGFBI) are major causes of genetic corneal dystrophies (CDs), which can be grouped into TGFBI CDs. Although a few studies have reported the clinical and genetic features of Korean patients with TGFBI CD, no data are available regarding the frequency and spectrum of TGFBI mutations in a consecutive series of Korean patients with clinically diagnosed CDs. Methods: Patients with any type of CD, who underwent both ophthalmologic examination and TGFBI gene analysis by Sanger sequencing at a tertiary care hospital in Seoul, Korea from 2006 to 2013, were enrolled in this study. Results: Among a total of 89 patients, 77 (86.5%) were diagnosed as having clinical TGFBI CD. Seventy-three out of 74 patients (98.6%) with granular CD type 2 (GCD2), had the p.R124H mutation. Of particular note, one patient with rapidly progressive CD had the p.R124H mutation as well as a novel nonsense variant with unknown clinical significance (p.A179*). In three patients with lattice CD type 1 (LCD1), one known mutation (p.R124C) and two novel variants (p.L569Q and p.T621P) in the TGFBI gene were identified. Conclusions: This study provides epidemiological insight into CDs in a Korean population and reaffirms that GCD2 is the most common TGFBI CD phenotype and that p.R124H is the only mutation identified in patients with GCD2. In addition, we broaden the spectrum of TGFBI mutations by identifying two novel missense variants in patients with LCD1.
송주선,기창석,김경아,민주홍,김종원,성덕현,김병준 연세대학교의과대학 2015 Yonsei medical journal Vol.56 No.4
Purpose: Spinal and bulbar muscular atrophy (SBMA) is an X-linked motor neurondisease characterized by proximal muscle weakness, muscle atrophy, and fasciculation. Although SBMA is not uncommon in Korea, there is only one study reportingclinical characteristics and genotype-phenotype correlation in Korean patients. Materials and Methods: In this study, age at the onset of symptoms, the score of severity assessed by impairment of activities of daily living milestones, and rate of disease progression, and their correlations with the number of CAG repeats in the androgen receptor (AR) gene, as well as possible correlations among clinical characteristics, were analyzed in 40 SBMA patients. Results: The median ages at onset and at diagnosis were 44.5 and 52.5 years, respectively, and median interval between onset and diagnosis and median rate of disease progression were 5.0 years and 0.23 score/year, respectively. The median number of CAG repeats in the AR gene was 44 and the number of CAG repeats showed a significant inverse correlationwith the age at onset of symptoms (r=-0.407, p=0.009). In addition, patients with early symptom onset had slower rate of disease progression. Conclusion: As a report with the largest and recent Korean cohort, this study demonstrates clinical features of Korean patients with SBMA and reaffirms the inverse correlation betweenthe age at disease onset and the number of CAG repeats. Interestingly, this study shows a possibility that the rate of disease progression may be influenced by the age at onset of symptoms.
송주선,강은숙,주은연,홍승봉,서대원,이수연 대한진단검사의학회 2014 Annals of Laboratory Medicine Vol.34 No.5
There have been a number of studies about correlations between HLA genotypes in vari- ous ethnic groups and occurrence of various cutaneous adverse drug reactions, ranging in intensity from mild to severe, caused by antiepileptic drugs (AEDs). This is the first report analyzing the HLA genotypes of 9 Korean patients with skin rashes induced by various AEDs. The AEDs that induced skin rash were lamotrigine (n=3), carbamazepine (n=3), oxcarbazepine (n=1), phenobarbital (n=1), and phenytoin (n=1). None of the patients’ HLA genotypes was either HLA-B*1502 or HLA-A*3101 . Based on these series of cases, AED-induced skin rash can occur independently of HLA-B*1502 or HLA-A*3101 geno- types in the Korean patients.
송주선,신상용,이승태,김희진,김선희 대한진단검사의학회 2014 Annals of Laboratory Medicine Vol.34 No.6
Although rearrangements involving each ETV6 and ABL1 gene are some of the most commonly observed chromosomal translo- cations in hematological malignancies [1, 2], an ETV6/ABL1 re- arrangement is very rare, and only 29 such cases have been re- ported to date [3]. This fusion has been associated with a wide range of hematological malignancies, including 11 cases of atyp- ical chronic myeloid leukemia ( BCR/ABL1 negative), 3 cases of myeloproliferative neoplasm (MPN), 5 cases of acute myeloid leukemia, and 10 cases of ALL. The rarity of this rearrangement is related to the inverse transcriptional orientation of the 2 genes relative to the centromeres, because it would involve at least 2 events to form an in-frame fusion transcript [3]. Here, we report a case of B-ALL with ETV6/ABL1 rearrangement.
Significance of Myositis Autoantibody in Patients with Idiopathic Interstitial Lung Disease
송주선,강은숙,황지원,차훈석,정병호,서지영,정만표 연세대학교의과대학 2015 Yonsei medical journal Vol.56 No.3
Purpose: Some patients with interstitial lung disease (ILD) related to connective tissue disease (CTD) have a delayed diagnosis of the underlying CTD when the ILD is categorized as idiopathic. In this study, we evaluated the frequency of myositisautoantibodies in patients diagnosed with idiopathic ILD and investigated the clinical significance stemming from the presence of the antibodies. Materials and Methods: A total 32 patients diagnosed with idiopathic ILD were enrolled in this study. We analyzed a panel of 11 myositis autoantibody specificities in the patients using a line blot immunoassay. Then, we divided them into myositis autoantibody-positive and -negative groups and compared the clinical features and laboratory data between the two groups. Results: Of the 32 idiopathic ILD patients, 12 patients had myositis autoantibodies encompassing 9 specificities, except for anti-Mi-2 and anti-PM-Scl 100 (12/32, 38%). Anti-synthetase autoantibodies including Jo-1, EJ, OJ, PL-7, and PL-12 were present in 7 patients (7/32, 22%). The group with myositis autoantibodies presented more frequently with the symptom of mechanic’s hand and showed abnormal pulmonary function test results with low forced vital capacity,diffusing capacity for carbon monoxide, total lung capacity, and high lactate dehydrogenasevalues in blood when compared with the group without myositis antibodies. Conclusion: We strongly suggest that patients undergo an evaluation of myositis autoantibodies, if they are diagnosed with idiopathic ILD in the presence of clinical characteristics including mechanic’s hand, arthralgia, and autoantibodies which are insufficient to make a diagnosis of a specific CTD category.
송주선(Ju-Sun Song),김형규(Hyung-Kyu Kim),이영호(Young-Ho Lee),김재훈(Jae-Hoon Kim) 한국트라이볼로지학회 2004 한국트라이볼로지학회 학술대회 Vol.39 No.-
In this paper, fretting wear tests were conducted in air at room temperature (RT) and in water at high temperature and high pressure (HTHP) environment to analyze the wear characteristic. As for the supporting condition between the tube and spring/dimple, the gap of 0.2 ㎜ in air at RT and the normal force of 10 N and the slip of 50 μ m in water at HTHP were applied. Four different shapes of spring/dimple specimen (type A, B, C, D) were used. Detail eaxamination of wear scar was also performed using SEM micrographs. As a result, in the case of the spring of truncated wedge, severer wear occurs than the others. Protrusion part was found and larger in air at RT. It is thought that the difference in the wear volume and the protrusion is caused by the different wear mechanism corresponding to the different environment.
송주선(Ju-Sun Song),김형규(Hyung-Kyu Kim),이영호(Young-Ho Lee),김재훈(Jae-Hoon Kim) 대한기계학회 2004 대한기계학회 춘추학술대회 Vol.2004 No.11
Fundamentally, slip displacement should be known to solve the problem related to the fretting wear. For this, methods for measuring the slip displacement range in the contact surface of the tube and the supports were introduced and analyzed in this study. Also the increment of the slip displacement during a cycle was calculated using the revised formulas. As a result, the slip displacement newly evaluated was much higher (7~50 times) than that previously evaluated especially in the case of the gap existence. This enables to explain the severe wear found when there was a gap between the tube and the supports.
송주선(Ju-Sun Song),김형규(Hyung-Kyu Kim),이영호(Young-Ho Lee),김재훈(Jae-Hoon Kim) 대한기계학회 2004 대한기계학회 춘추학술대회 Vol.2004 No.4
Slip displacement is brought into focus to study the tube fretting wear that occurs on the contact by the springs. An oscillating tube was in contact with plate support springs. The contact condition was varied as normal force 5 N, and gaps of 0.1 and 0.2 ㎜ in the experiment. The oscillation range of the tube was also varied as 0.2, 0.3, 0.4 and 0.7 ㎜. Formulas for predicting the slip displacement range were derived in terms of the vibration amplitudes measured during the tube oscillation. It was found that the slip displacement in transverse direction was much higher (720~33000 times) than that in axial one. This resulted in the severer wear on the contact suffered from transverse slip.
튜브 프레팅마멸 연구를 위한 접촉부 미끄럼 거동의 실험적 분석
송주선(Ju-Sun Song),김형규(Hyung-Kyu Kim),이영호(Young-Ho Lee),김재훈(Jae-Hoon Kim) 한국트라이볼로지학회 2004 한국트라이볼로지학회 학술대회 Vol.38 No.-
To study the fretting wear problem of a nuclear fuel, the behaviour of slip displacement at the contact is investigated in this paper. The slip displacement was evaluated from the vibration amplitudes measured during a fretting wear experiment in real time basis. The experiment was conducted in air at room temperature and one span of a fuel assembly was simulated. The contact condition between the grids and rods varied as the normal force of 5 N and gap of 0.2 ㎜. The fuel rod was vibrated with the frequency of 30 ㎐ and the center oscillation of 0.7 ㎜. Simple geometrical equations were used for the axial and transverse slip displacement. The trace of rod movement was investigated, which was affected by the contact condition. The vibration characteristic was not altered during the experiment when a specific contact condition was applied. The severest wear on the rod occurred in the case of axial slip and gap existence. It implies that the mechanism of impact wear should be understood for studying the fuel fretting problem.