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젊은 성인 여성에서 OTC유전자의 c.386+5G>A 돌연변이로 발생한 고암모니아뇌병증
추이슬,구가은,강유진,강동욱,고영준,박지영,박찬영,한수현 대한신경과학회 2024 대한신경과학회지 Vol.42 No.1
Noncirrhotic hyperammonemia as a cause of acute confusion remains diagnostic challenge. Deficiency of ornithine transcarbamylase (OTC) is the urea cycle disorder, inborn errors caused by a defect of the enzymes in the urea cycle, leading to an accumulation of ammonia mainly in newborn. There were very few cases, in which OTC deficiency result in hyperammonemia in adulthood. Herein, we report a young adult woman of hyperammonemic encephalopathy with OTC deficiency, diagnosed by high blood ammonia, glutamine and low plasma levels of citrulline. Next generation sequencing showed the c.386+5G>A mutation of the OTC gene.
Cr강의 미세조직과 파괴인성에 미치는 열간단조 및 열처리 공정의 영향
이동준,권용남,김민석,구가은,허상현,김남용,이진모 대한금속·재료학회 2018 대한금속·재료학회지 Vol.56 No.3
In this study, the effects of hot forging and heat treatment (quenching and tempering) of cast Cr alloy steel on the microstructures and mechanical properties were investigated. The hot forging was performed at a compressive ratio 0.5 at 1,250 oC. The heat treatment process was quenching (860 oC for 2 hours and water quenching) and tempering (655 oC for 2 hours and air cooling). The microstructures of the hot forged specimen showed bainite, pearlite and ferrite mixed phases with high tensile strength, but showed low fracture toughness. The heat treated specimens after hot forging showed tempered martensite microstructure and high fracture toughness but relatively low yield and tensile strengths. After tensile and fracture toughness tests, the cast and the hot forged specimens both showed cleavage fracture surfaces, which occurred between lamellar structures. However, the heat treated specimen had a ductile fracture surface with dimple shaped fractures. From these results, we could conclude that the high fracture toughness was caused not by the cleavage fracture mode in the pearlite and bainite phases, but delayed fracture due to a ductile fracture mode in the tempered martensite phase.