• Clinical and Experimental Pediatrics
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• 제61권12호
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• pp.403-406
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• 2018

Floating-Harbor syndrome is a rare autosomal dominant genetic disorder associated with SRCAP mutation. To date, approximately 50 cases of Floating-Harbor syndrome have been reported, but none have been reported in Korea yet. Floating-Harbor syndrome is characterized by delayed bony maturation, unique facial features, and language impairment. Here, we present a 6-year-old boy with a triangular face, deep-set protruding eyes, low-set ears, wide nose with narrow nasal bridge, short philtrum, long thin lips, clinodactyly, and developmental delay that was transferred to our pediatric clinic for genetic evaluation. He showed progressive delay in the area of language and cognition-adaption as he grew. He had previously undergone chromosomal analysis at another hospital due to his language delay, but his karyotype was normal. We performed targeted exome sequencing, considering several syndromes with similar phenotypes. Library preparation was performed with the TruSight One sequencing panel, which enriches the sample for about 4,800 genes of clinical relevance. Massively parallel sequencing was conducted with NextSeq. An identified variant was confirmed by Sanger sequencing of the patient and his parents. Finally, the patient was confirmed as the first Korean case of Floating-Harbor syndrome with a novel SRCAP (Snf2 related CREBBP activator protein) mutation (c.7732dupT, p.Ser2578Phefs*6), resulting in early termination of the protein; it was not found in either of his healthy parents or a control population. To our knowledge, this is the first study to describe a boy with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing in Korea.

• 치과방사선
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• 제20권2호
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• pp.253-264
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• 1990

PanelipseⅡ 파노라마 방사선사진 촬영시 두 경부 주요기관의 방사선 흡수선량 분포를 평가하기 위하여 LiF(TLD-100/sup R/) 열발광선량계를 phantom (RT-210 Humanoid Head & Neck Section/sup R/)내부의 중요 해부구조물과 피부표면에 위치시켜 관전류 4㎃와 노출시간 20초의 조건하에서 관전압변화(65kVp. 75kVp, 85kVp)에 따른 방사선 흡수선량을 측정하여 아래와 같은 결론을 얻었다. 내부해부구조물의 방사선 흡수선량은 비인강부위에서 104mGy, 1.065mGy, 2.09mGy로써 가장 높게 나타났고 이하선의 내엽부위에서는 0.525mGy, 0.579mGy, 1.108mGy로, 악하선부위에서는 0.481mGy, 0.608mGy, 1.191mGy로 비교적 높게 나타났으며 85kVp에서만 흡수선량이 측정된 안구와 갑상선부위는 0.172mGy와 0.128mGy로써 비교적 낮게 나타났다. 피부표면의 방사선 흡수선량은 제1경추 후방부위에서 1.263mGy, 1.538mGy, 2.952mGy로써 가장 높게 나타났고 이하선부위에서는 0.267mGy, 0.401mGy, 0.481mGy로 비교적 높게 나타났으며 인중부위는 0.057mGy, 0.068mGy, 0.081mGy, 85kVp에서만 흡수선량이 측정된 턱의 중앙부위는 0.059mGy로써 비교적 낮게 나타났다. 관전압 증가에 따른 내부해부구조물의 방사선 흡수선량 증가는 65kVp에서 75kVp로 증가함에 따라 1.1배로 나타났으며, 76kVp에서 85kVp로 증가시에는 1.9배로 나타났다. 관전압 증가에 따른 피부표면의 방사선 흡수선량 증가는 65kVp에서 75kVp로 증가함에 따라 1.3배로 나타났으며, 75kVp에서 85kVp로 증가시에는 1.6배로 나타났다.