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Song Ari,Im Minji,Kim Min-Sun,Noh Eu Seon,Kim Chiwoo,Jang Jahyun,Lee Sae-Mi,Ki Chang-Seok,Cho Sung Yoon,Jin Dong-Kyu 대한소아내분비학회 2023 Apem Vol.28 No.1
Coffin-Lowry syndrome (CLS, OMIM # 303600) is a rare X-linked disorder caused by mutations in RPS6KA3. CLS is characterized by facial dysmorphism, digit abnormalities, developmental delays, growth retardation, and progressive skeletal changes in male patients. Females with CLS are variably affected, complicating diagnosis. Here, we describe the clinical and molecular findings in a female Korean child with CLS and review the associated literature. A 5-year-old girl presented with short stature and developmental delays. She had a coarse facial appearance characterized by a prominent forehead, hypertelorism, thick lips, and hypodontia. She also had puffy tapering fingers and pectus excavatum. We performed exome sequencing and identified a novel, likely pathogenic, heterozygous variant, c.326_338delinsCTCGAGAC (p.Val109Alafs*10), in RPS6KA3 (NM_004586.2). This is the first Korean female genetically diagnosed with CLS. In contrast to the delayed bone age reported in previous studies, our patient showed advanced bone age and central precocious puberty. CLS should be considered as a differential diagnosis of short stature, tapering fingers, and developmental delay. We suggest that molecular techniques can be a useful tool for diagnosis of rare disorders such as CLS because such conditions are not simple, and the associated spectrum of phenotypes can vary.
Hematopoietic Cell Transplantation in Patients with Mucopolysaccharidosis Type II
Song, Ari Association for Research of MPS and Rare Diseases 2021 Journal of mucopolysaccharidosis and rare disease Vol.5 No.1
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase, leading to the accumulation of glycosaminoglycans (GAGs), which affects multiple organs and systems. Current treatments for MPS II include enzyme replacement therapy (ERT) and hematopoietic cell transplantation (HCT) to reduce the accumulation of GAGs. HCT has the potential advantage that donor-derived enzyme-competent cells can provide a continuous secreting source of the enzyme. However, HCT as a treatment for MPS II remains controversial because its effectiveness is unclear, particularly in terms of neurological symptoms. To date, several clinical experiences with HCT in MPS II have been reported. In this paper, we review post-HCT outcomes in the previously published literature and discuss the effects of HCT on each of the clinical signs and symptoms of MPS II.
단일 기관에서 경험한 소아 아토피피부염 환자의 감작 분포
송아리 ( Ari Song ),이지영 ( Ji Young Lee ),양혜경 ( Hea-kyoung Yang ),김민지 ( Minji Kim ),안강모 ( Kangmo Ahn ),이상일 ( Sang-il Lee ),김지현 ( Jihyun Kim ) 대한천식알레르기학회(구 대한알레르기학회) 2016 Allergy Asthma & Respiratory Disease Vol.4 No.4
Purpose: There are few recent data regarding allergic sensitization of atopic dermatitis (AD) in Korea. The aim of this study was to investigate patterns of sensitization according to age and gender in children with AD.Methods: This retrospective study included 4,661 children with AD from 1998 to 2014. The serum specific IgE (sIgE) levels to egg white (EW), cow’s milk (CM), peanut, wheat, soybean, buckwheat, tree nuts, crustaceans, meat, and house dust mites (HDMs) were reviewed. AD was categorized into the extrinsic (ADe) and intrinsic type (ADi) according to the presence or absence of sensitization. The proportion of patients with sIgE to EW or CM greater than the previously reported diagnostic decision point (DDP) was determined.Results: A total of 4,661 children (2,843 boys and 1,818 girls) were collected. We identified 1,857 of 2,663 children (69.7%) with the ADe type and 806 of 2,663 children (30.3%) with the ADi type. The sensitization rates increased with age (P<0.001). EW (59.3%) was the most commonly sensitized food, followed by CM (46.6%), peanut (32.2%), wheat (31.5%), soybean (28.1%), and buckwheat (23.7%). The most commonly sensitized food groups were tree nuts (56.7%) and crustaceans (28.3%). The rate of sensitization to HDMs was 40.1%. In addition, 11.1% and 7.5% of children had levels of sIgE to EW and CM, respectively, higher than the DDP.Conclusion: The incidence of ADe among children with AD was 69.7% and increased with age. The most commonly sensitized food allergen was EW, followed by CM and peanut. (Allergy Asthma Respir Dis 2016:4:290-295)
Ari Chong,Jung-Min Ha,Ho-Chun Song,Min-Young Jung,Young Cheol Kim 조선대학교 의학연구소 2013 The Medical Journal of Chosun University Vol.38 No.3
We compared the results of early follow-up of F-18 FDG PET/CT and MRI performed within one month after radiation therapy for cervix cancer patients. We conducted a retrospective review of the clinical data of cervix cancer patients whose PET/CT and pelvic MRI performed at staging and within one month from the end of RTx. SUVmax on PET/CT and size on MRI of the primary tumor were analyzed. We compared %change of SUVmax and size between staging and follow-up. A total of 27 patients were enrolled. At staging, larger tumor showed high SUVmax. At follow-up, no significant correlation was observed between size and SUVmax. In 77.8% of patients, changes in SUVmax were well correlated with changes in size. No correlation was observed between % change and value at staging in both SUVmax and size. Except for six patients who showed significant FDG uptake without evidence of a mass on MRI, % changes of size and SUVmax were well correlated. Metabolic change can be accessible on early follow-up PET/CT at±1 month from the end of the RTx of cervix cancer. However, careful interpretation of PET/CT is needed due to possible radiation-induced hypermetabolism even without a definite mass on MRI.
소양호에 서식하는 쏘가리 Siniperca scherzeri의 성숙과 산란 특성
신아리 ( Ari Shin ),박희원 ( Heewon Park ),이완옥 ( Wan-ok Lee ),송미영 ( Mi-young Song ) 한국어류학회 2018 韓國魚類學會誌 Vol.30 No.2
본 논문은 소양호에 서식하는 내수면어업의 주요 수산자원 중 하나인 쏘가리 (Siniperca scherzeri)의 성숙과 산란에 관하여 연구하였다. 본 논문에 사용된 쏘가리는 2014년 4월부터 11월까지 정치망과 자망을 통해 채집하였고, 암컷이 204개체로 전장범위는 113~365 mm이었고, 수컷은 197개체로 전장 범위가 140~342mm이었다. 산란기가 시작되는 5월의 수온은 15°C를 나타냈으며, 점진적으로 높아져 7월에 26°C를 나타내었다. 암컷의 생식소 숙도지수 (GSI)는 5월에서 7월까지 각각 2.3%, 4.6%, 3.1%로 나타났고, 수컷의 경우 8.0%, 6.6%, 4.5%로 나타났다. 난소 조직은 5월에 많은 수의 샘플이 중숙으로 관찰되었으며 6월에는 대다수가 성숙, 7월에는 완숙 및 방란으로 관찰되었다. 정소 조직의 경우에도 마찬가지로 5월에는 대다수가 중숙, 6월에는 성숙, 7월에는 방중으로 관찰되었다. 월별 성숙도와 생식소 숙도지수 (GSI), 생식소의 조직관찰을 통한 분석결과, 소양호에 서식하는 쏘가리의 산란기는 5월에서 6월로 추정되었다. 또한 군성숙도를 분석한 결과, 암컷 쏘가리의 50% 성숙체장은 245.16mm로 나타났다. The study about maturity and spawning of Korean Mandarin fish, Siniperca scherzeri collected using the set net and gill net in Soyangho Lake from April to November 2014 was conducted. The number of individuals was 401 (female: 204, male: 197). The total length of females ranged from 113 mm to 365 mm and that of males was from 140 mm to 342 mm. The water temperature in May which is the start of spawning season indicated about 15°C and gradually increased to July (26°C). Gonadosomatic index (GSI) of females indicated 2.3%, 4.6% and 3.1%, respectively, in May to July. Males’ value showed the similar pattern recording 8.0%, 6.6% and 4.5% in the same time. According to histological observations of gonadal tissue, the most of female in May had the gonadal tissue of maturing and mature stage. And the ovary of June was mostly in the stage of ripe and spawning and a number of individuals in July was recovery stage. In the case of male, a number of males in May showed in the stage of mature. The testis of June showed that mature sperm was releasing. And the testis of July was mostly in recovery stage. The total length at 50% group maturity was estimated 245.16 mm. As shown in the above, the main spawning period of S. scherzeri was May to June.
Im Minji,Song Ari,Kim Jiyeon,Kim Min-Sun,Lee Sae-Mi,Kim Mi Jin,Cho Sung Yoon,Jin Dong-Kyu 대한소아내분비학회 2022 Annals of Pediatirc Endocrinology & Metabolism Vol.27 No.3
Wilson disease (WD) is a relatively common genetic hepatic disease in children and is characterized by excessive copper accumulation, predominantly in the liver and brain. It is an autosomal recessive disease caused by an ATP7B mutation that causes brain degeneration and is potentially fatal if diagnosed late or untreated. In the early phase of WD, its initial presentation may include mild hepatic involvement. WD may be overlooked as a cause of liver disease due to severe obesity but should not be excluded from differential diagnosis. We report a case of WD with severe obesity and fatty liver diagnosed in the early phase by targeted gene panel sequencing and review the endocrine problems associated with WD. Early suspicion of WD is important for good prognosis.