• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.1
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• pp.34-41
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• 2016

Adult-onset type II citrullinemia (CTLN2) is characterized by episodes of neurologic symptoms associated with hyperammonemia leading to disorientation, irritability, seizures, and coma. CTLN2 is distinct from classical citrullinemia, which is caused by a mutation of the argininosuccinic acid synthetase (ASS) gene. The serum citrulline level is elevated, while the activity of ASS in liver tissue is decreased. CTLN2 is known to have a poor prognosis if the proper treatment is not taken. We reported a female aged 37 years who developed recurrent attacks of altered consciousness, aberrant behavior, and vomiting. We initially suspected the patient had CTLN2 because of the signs of hyperammonemic encephalopathy, such as altered mentality, memory disturbance, and aberrant behaviors provoked by exercise-induced stress and excessive intravenous amino acid administration. Through her peculiar diet preferences and laboratory findings that included hyperammonemia and citrullinemia, we diagnosed the patient as CTLN2, and SLC25A13 sequencing revealed known compound heterozygous mutations (IVS11+1G>A, c.674C> A). Her parents were heterozygous carriers, and we identified that her older sister had the same mutations. The older sister had not experienced any episodes of hyperammonemia, but she had peculiar diet preferences. The patient and her sister have been well with conservative management. When considering the clinical course of CTLN2, it was meaningful that the older sister could be diagnosed early in an asymptomatic period and that preemptive treatment was employed. Through this case, CTLN2 should be considered in adults who present symptoms of hyperammonemic encephalopathy without a definite etiology. Because of its rare incidence and similar clinical features, CTLN2 is frequently misdiagnosed as hepatic encephalopathy, and it shows a poor prognosis due to the lack of early diagnosis and proper treatment. A high-carbohydrate diet, which is usually used to treat other urea cycle defects, can also exaggerate the clinical course of CTLN2, so proper metabolic screening tests and genetic studies should be performed.

• Proceedings of the Korean Geotechical Society Conference
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• 2009.09a
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• pp.133-144
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• 2009

Incheon Bridge, 18.4 km long sea-crossing bridge, will be opened to the traffic in October 2009 and this will be the new landmark of the gearing up north-east Asia as well as the largest & longest bridge of Korea. Incheon Bridge is the integrated set of several special featured bridges including a magnificent cable-stayed girder bridge which has a main span of 800 m width to cross the navigation channel in and out of the Port of Incheon. Incheon Bridge is making an epoch of long-span bridge designs thanks to the fully application of the AASHTO LRFD (load & resistance factor design) to both the superstructures and the substructures. A state-of-the-art of the geotechnologies which were applied to the Incheon Bridge construction project is introduced. The most Large-diameter drilled shafts were penetrated into the bedrock to support the colossal superstructures. The bearing capacity and deformational characteristics of the foundations were verified through the world's largest static pile load test. 8 full-scale pilot piles were tested in both offshore site and onshore area prior to the commencement of constructions. Compressible load beyond 30,000 tonf pressed a single 3 m diameter foundation pile by means of bi-directional loading method including the Osterberg cell techniques. Detailed site investigation to characterize the subsurface properties had been carried out. Geotextile tubes, tied sheet pile walls, and trestles were utilized to overcome the very large tidal difference between ebb and flow at the foreshore site. 44 circular-cell type dolphins surround the piers near the navigation channel to protect the bridge against the collision with aberrant vessels. Each dolphin structure consists of the flat sheet piled wall and infilled aggregates to absorb the collision impact. Geo-centrifugal tests were performed to evaluate the behavior of the dolphin in the seabed and to verify the numerical model for the design. Rip-rap embankments on the seabed are expected to prevent the scouring of the foundation. Prefabricated vertical drains, sand compaction piles, deep cement mixings, horizontal natural-fiber drains, and other subsidiary methods were used to improve the soft ground for the site of abutments, toll plazas, and access roads. Light-weight backfill using EPS blocks helps to reduce the earth pressure behind the abutment on the soft ground. Some kinds of reinforced earth like as MSE using geosynthetics were utilized for the ring wall of the abutment. Soil steel bridges made of corrugated steel plates and engineered backfills were constructed for the open-cut tunnel and the culvert. Diverse experiences of advanced designs and constructions from the Incheon Bridge project have been propagated by relevant engineers and it is strongly expected that significant achievements in geotechnical engineering through this project will contribute to the national development of the longspan bridge technologies remarkably.