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- 저자 : 송우선 (검색결과 4 건)
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Long-term Clinical Course of a Korean Girl with β-ureidopropionase Deficiency
송우선,박영진,이준화,Song, Woo Sun,Park, Youngjin,Lee, Jun Hwa The Korean Society of Inherited Metabolic Disease 2017 대한유전성대사질환학회지 Vol.17 No.1
${\beta}$-ureidopropionase 결핍증(${\beta}$-UPD)은 UPB1 유전자 변이에 의한 피리미딘 대사 이상에 의해 생기는 매우 드문 상염색체 열성 유전 질환으로 현재까지 전 세계에서 30여명 정도만 보고되었다. ${\beta}$-UPD는 무증상인 경우부터 심한 발달 지연, 소두증, 발작, 인지 저하의 증상을 보이는 경우까지 다양하다. 국내에서 진단된 유일한 ${\beta}$-UPD 여자 환자는 8세 10개월에 targeted next-generation sequencing 검사로 UPB1 유전자 변이를 확인 한 후, Sanger sequencing을 통해 확진하였다. 환자는 성장 장애, 발단 지연, 소두증, 반복되는 감염 및 난치성 뇌전증 증상을 보였으며, 11세 5개월에 원인 미상으로 갑자기 사망하였다. 이에 저자들은 ${\beta}$-UPD 환자의 장기간의 임상경과에 대해 보고하는 바이다. ${\beta}$-ureidopropionase deficiency (${\beta}$-UPD; OMIM # 613161) is a rare autosomal recessive inborn error of pyrimidine metabolism caused by mutations in the UPB1 gene and approximately 30 cases have been reported in the world. The clinical features of patients with ${\beta}$-UPD have been reported to vary from asymptomatic to severe developmental delays. However, the long-term clinical courses of patients with ${\beta}$-UPD have not yet been reported. A Korean girl was diagnosed with ${\beta}$-UPD at the age of 8 years and 10 months by targeted next-generation sequencing which was subsequently confirmed by Sanger sequencing. She had many clinical features such as poor oral feeding, failure to thrive, global developmental delay, microcephaly, frequent infection, and intractable epilepsy. She died suddenly of an unknown cause at the age of 11 years and 5 months. Here we report the long-term (i.e. lifelong) clinical aspects of a Korean patient with ${\beta}$-UPD.
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Verification of Tox21 PPARγ HTS data using orthogonal assay and in silico analysis
Woo-Seon SONG(송우선),Dong-Hee KOH(고동희),Eun-Young KIM(김은영) 환경독성보건학회 2021 한국독성학회 심포지움 및 학술발표회 Vol.2021 No.5
The Tox21 high throughput screening(HTS) data has the advantage of high-speed screening, but only the verification of chemicals through three repeated experiments doesn’t provide sufficient information on chemicals. Human peroxisome proliferator-activated receptor gamma(PPARγ) showed lower reliability compared to other receptors in three replicates tested in the Tox21 10k library project. PPARγ is well known as a regulator of adipogenesis and insulin sensitivity. In this study, the in vitro data of PPARγ presented in Tox21 high-throughput screening (HTS) was verified through orthogonal assay, and the application of the in silico model was investigated. We constructed a PPARγ-GAL4-UAS system-based reporter gene assay in CV-1 cells for comparison with the results of HEK293 cells used in the Tox21 HTS system. 33 chemicals for agonist and 29 chemicals for antagonist were tested to identify chemicals that can possibly act in PPARγ. In agonist test, 39% of chemicals showed a similar trend in between CV-1 and HEK293 cells. And results from antagonist test 51% of chemicals showed a similar trend in the two cells. Additionally, based on highly reliable in vitro data obtained using an orthogonal assay in this study, it was confirmed whether it can be applied to in silico analysis. In both the agonist and antagonist tests, it was confirmed that active and inactive chemicals were reliably classified when only highly reliable chemicals showing similar reactivity in two cell lines were used. These results mean that if a reliable database is constructed using orthogonal assays, the number of chemicals is small, but the classification level of the in silico model can be improved.
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Parotid sialolithiasis in a two-year-old boy
김도훈,송우선,김영진,김원덕 대한소아청소년과학회 2013 Clinical and Experimental Pediatrics (CEP) Vol.56 No.10
Sialolithiasis is caused by the obstruction of a salivary gland or its excretory duct by the formation of calcareous concretions or sialoliths; this results in salivary ectasia and provokes subsequent dilation of the salivary gland. Sialolithiasis is relatively common, accounting for 30% of salivary diseases; however, it is rarely observed in childhood. This case report describes a 2-year-old male patient who complained of a painful swelling over the right cheek, and presented with palpable stones and pus discharge from the orifice of the right Stensen's duct. Computerized tomography of the neck confirmed the diagnosis, and the patient received intravenous empiric antibiotics combined with intraoral sialolithotomy. We also provide a review of the spectrum of concepts regarding the pathogenesis, diagnosis, and treatment of sialolithiasis.
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Chronic Placental Inflammation as a Risk Factor of Severe Retinopathy of Prematurity
김채영,정의석,김은나,김종재,이주용,황지혜,송우선,이병섭,Ellen Ai-Rhan Kim,김기수 대한병리학회 2018 Journal of Pathology and Translational Medicine Vol.52 No.5
Background: Chronic placental inflammation (CPI) has been implicated in the pathogenesis of diseases in premature infants, whereas retinopathy of prematurity (ROP) is a major complication primarily affecting preterm and very low-birth-weight (VLBW) infants. This study aims to investigate the association between CPI and ROP in VLBW infants. Methods: We performed a retrospective review of clinical records of VLBW infants born between 2013 and 2016. Placental pathology findings including CPI cases were analyzed using logistic regression to study infants’ morbidities and other clinical characteristics. Results: A total of 402 infants with a mean (standard deviation) gestational age of 28.5 (2.8) weeks and birth weight of 1,027.2 (304.4) g were included. The incidence of ROP was 24.1%. CPI was found in 90 infants (22.4%), among which 28.9% (26 of 90) developed ROP, and 21.1% (19 of 90) underwent laser photocoagulation. Lower gestational age, lower birth weight, longer duration of oxygen supply, and presence of CPI were associated with the development of ROP. After adjustment for gestational age, birth weight, sex, duration of oxygen supply, and other overlapping placental pathology, CPI was associated with the odds for type 1 ROP that required laser photocoagulation (adjusted odds ratio, 2.739; 95% confidence interval, 1.112 to 6.749; p = .029). Conclusions: CPI was associated with severe ROP requiring treatment with laser photocoagulation in VLBW infants.
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