• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.15 no.2
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• pp.122-126
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• 2012

Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by multiple recurrent episodes of severe cholestatic jaundice without obstruction of extrahepatic bile duct. We present the case of a 7-year-old boy with BRIC confirmed by mutation analysis in the ATP8B1 gene and typical clinical manifestation. Despite inheritance of BRIC, we detected a mutation on only one allele. To our knowledge, this is the first report of BRIC with a confirmed single heterozygote novel mutation in the ATP8B1 gene in Korea.

• Journal of the Korea Society of Computer and Information
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• v.9 no.3
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• pp.1-6
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• 2004

there needs a new Geographic information system development Technology of the abstraction, encapsulation, modulation and hierarchy using Graphic representation of object modeling Technique. The method is based on composite object of Graphic data with the hierarchy concepts and abstraction of Graphic information in order to improve data abstraction of the graphic data file and described concept of multiple inheritance and classification that supports a wide variety of graphic class such as mesh unit, layer. segment and so on. in simple case of software development using SPICE model and object modeling techniques. this thesis suggested object representation of Graphic data which can reduce software development life cycle and the cost of software maintenance.

• The Korean Journal of Nuclear Medicine
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• v.23 no.1
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• pp.1-6
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• 1989

The occurrence of thyroid disorders is connected with iodine deficiency, defective synthesis or releasing of thyroid hormone and endemicity. Genetic factors are known as a single gene defects, interaction of multiple genes with environmental factors, as well as chromosomal aberrations. Diofnosis thyroid disorders is enforced by I-131 uptake test, thyroid scanning with I-131 or Tc-99 m and serum radioimmunoassays of T3, T4, free T4 and TSH. They were largely classified as hypothyroidism, hyperthyroidism, simple goiter and normal. The pedigree of 58 families was drawn by propositus, and then the correlation between thyroid disorders and TSH levels was analyzed. The results are as follows: 1) The offsprings and their mothers of 15 families were hypothyroidism, THS level was 5 folds for offsprings and 4 folds for mothers in comparison with control group. 2) 13 families were hyperthyyroidism in siblings but their mothers were normal in thyroid function, TSH level of the siblings was lower than control group. 3) Though the offsprings and their mothers of 10 families were similar to TSH level of control group, they are all simple goiter, familial thyroid disorders, in other thyroid function test. The familial thyroid disorders suggested that these transmitted from mothers to offsprings with X-linked dominant or autosomal dominant inheritance.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.6
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• pp.2107-2117
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• 2015

Thyroid cancer is the most common endocrine neoplasia. The medullary thyroid carcinoma (MTC) is one of the most aggressive forms of thyroid malignancy,accounting for up to 10% of all types of this disease. The mode of inheritance of MTC is autosomal dominantly and gain of function mutations in the RET proto-oncogene are well known to contribute to its development. MTC occurs as hereditary (25%) and sporadic (75%) forms. Hereditary MTC has syndromic (multiple endocrine neoplasia type 2A, B; MEN2A, MEN2B) and non-syndromic (Familial MTC, FMTC) types. Over the last two decades, elucidation of the genetic basis of tumorigenesis has provided useful screening tools for affected families. Advances in genetic screening of the RET have enabled early detection of hereditary MTCs and prophylactic thyroidectomy for relatives who may not show any symptom sof the disease. In this review we emphasize the main RET mutations in syndromic and non syndromic forms of MTC, and focus on the importance of RET genetic screening for early diagnosis and management of MTC patients, based on American Thyroid Association guidelines and genotype-phenotype correlation.

• Journal of Korean Neurosurgical Society
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• v.59 no.3
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• pp.187-191
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• 2016

Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis.

• The Journal of Information Technology
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• v.5 no.1
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• pp.29-37
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• 2002

Distributed programming can be greatly simplified by language support for distributed communication. Many web browsers now offer some form of distributed objects and the number and types of them are growing daily in interesting and innovative ways CORBA IDL and Java RMI, the representative of distributed object model, support different approaches for distributed computing environments. CORBA approach does not support the application generated by java RMI, even though it supports multiple programming languages. Object translation system between RMI to CORBA is designed and implemented for interoperability of distributed objects on the two different distributed programming environments. Suggested system is considered binding, inheritance, polymorphism, object passing, and callback which are key properties on the distributed objects. Translation System we suggested is implemented on the Window/NT(version 4.0) with Java Development Kit(version 1.1.6).

• Journal of KIISE:Software and Applications
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• v.34 no.7
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• pp.603-615
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• 2007

Software changes for various kinds of reasons and they increase maintenance cost. Software metrics, as quantitative values about attributes of software, have been adopted for predicting maintenance cost and fault-proneness. This paper proposes relationship between some typical object-oriented metrics and software changes in industrial settings. We used seven metrics which are concerned with size, complexity coupling, inheritance and polymorphism, and collected data about the number of changes during the development of an Information system on .NET platform. Based on them, this paper proposes a model for predicting the number of changes from the object-oriented metrics using multiple regression analysis technique.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.19 no.1
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• pp.26-30
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• 2019

PCDH19-related epilepsy is an inherited disease occurring in female patients and characterized by early onset seizure, intellectual disability, and behavioral disturbances. It is caused by de novo or familial heterozygous variation of the PCDH19 gene located on Xq22.1. Our patient was hospitalized for multiple focal seizures. The magnetic resonance imaging was normal and electroencephalogram showed focal epileptiform discharges. The child's development did not progress; she began to manifest, cognitive, behavioral and language delays. Because of that, we performed an epilepsy gene panel test. We report a case of epilepsy with mental retardation limited to female patients with mutation of PCDH19.

• Korean Journal of Biological Psychiatry
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• v.26 no.2
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• pp.88-93
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• 2019

Objectives Psychological stress has been known to increase the risk of schizophrenia. Because stress responses are mainly mediated by cortisol, the action of the glucocorticoid receptors (Nuclear Receptor Subfamily 3 Group C Member 1, NR3C1) is possibly related to the pathogenesis of schizophrenia. In this study, we investigated the associations between polymorphisms of NR3C1 and schizophrenia. Methods Four single nucleotide polymorphisms (SNPs) (rs17100236, rs2963155, rs9324924, and rs7701443) of NR3C1 were genotyped in 208 patients with schizophrenia and 339 healthy individuals. A chi-square test was performed to test differences in allele distributions among groups. A multiple logistic regression model was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs), and multiple inheritance models to analyze the associations between schizophrenia and SNPs (the dominant, recessive and additive models). Results The minor allele frequencies of two SNPs were significantly higher in the schizophrenia group than in those of the control group (rs2963155 G > A : 0.25 vs. 0.18, p = 0.0066 ; rs7701443 A > G : 0.40 vs. 0.33, p = 0.012). The genotype frequencies of two SNPs were found to be significantly different between patients with schizophrenia and controls in the dominant model (rs2963155 : AG/GG vs. AA, OR = 1.66, 95% CI = 1.16-2.38, p = 0.0055, rs7701443 : AG/AA vs. GG, OR = 1.61, 95% CI = 1.11-2.34, p = 0.01) and the log-additive model (rs2963155 : AG vs. GG vs. AA, OR = 1.54, 95% CI = 1.13-2.10, p = 0.0067). Conclusions This study showed significant associations between NR3C1 polymorphisms and schizophrenia. It suggests that NR3C1 may play a role in the pathogenesis of schizophrenia.

• The Journal of the Institute of Internet, Broadcasting and Communication
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• v.23 no.4
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• pp.183-188
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• 2023

Game object inheritance and multiple components allow for visualization of system architecture, good code reuse, and fast prototyping. On the other hand, objects are more likely to rely on high latency between game objects and components, static casts, and lots of references to things like null pointers. Therefore, It is important to design a game in such a way so that the dependency of objects on multiple classes could be reduced and existing codes could be reused. Therefore, we designed the game to make the classes more modular by applying Dependency Injection and the design patterns proposed by the Gang of Four. Since these dependencies are attributes of the game object and the injection occurs only in the initialization pass, there is little performance degradation or performance penalty in the game loop. Therefore, this paper proposed an efficient design method to effectively reuse APIs in the design and implementation of survival games.