• Journal of Chest Surgery
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• 제46권2호
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• pp.156-158
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• 2013

Thoracic extramedullary hematopoiesis (EMH) is a rare disease entity that is usually associated with hematologic disorders, such as myelodysplastic or hemolytic disease. Because thoracic EMH is usually encountered as a mass during radiologic examinations, it should be differentiated from posterior mediastinal neurogenic tumors. Here, the authors report a case of EMH associated with hereditary spherocytosis. The patient underwent a complete excision by thoracoscopic surgery to differentiate it from other mediastinal tumors.

• Asian Pacific Journal of Cancer Prevention
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• 제16권6호
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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 Yeungnam Medical Science
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• 제29권1호
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• pp.45-47
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• 2012

Osteochondroma is a common bone tumor but a rare tumor in the rib. It is often asymptomatic and observed incidentally. This is a case report of a 49-year-old woman with an osteochondroma mimicking a mediastinal mass in hereditary multiple exostoses. The chest X-ray and computed tomography (CT) scans revealed the bony density feature of the mass. Surgical excision confirmed that the lesion was an osteochondroma.

• 종양간호연구
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• 제11권2호
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• pp.147-154
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• 2011

Purpose: This study was performed to evaluate Korean nurses' knowledge about hereditary colorectal cancer (HCRC). Methods: A modified 15-item HCRC knowledge questionnaire was developed based on previous research. One hundred and forty-eight nurses have completed the questionnaire from February to April, 2011. Results: The average score of nurses' knowledge was $11.25{\pm}1.54$. Ninety-seven percent of nurses knew about colonoscopy check up schedule and family pedigree. However, only 20% of nurses knew about the rate of passing on mutation genes to offspring and risk of developing CRC among carriers. Only 13.5% of nurses had previous genetic education experiences. Working in oncology units, taking care of CRC patients, and participating in genetic education were not associated with nurses' HCRC knowledge. Conclusion: Various factors influence nurses' knowledge about HCRC. Repeated study with larger national sample of nurses is recommended to identify the factors affecting nurses' knowledge level in order to develop efficient genetic education programs for HCRC patients and their families by nurses.

• Journal of Yeungnam Medical Science
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• 제16권1호
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• pp.114-118
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• 1999

LHON은 사립체 DNA의 점돌연변이에 의해서 유발되며 11778, 3460, 14484의 세 부위가 주된 사립체 DNA 점돌연변이의 위치로 알려져 있다. 이에 저자들은 점진적인 시력 저하를 호소하면서 사립체 DNA 분석 결과 11778 점돌연변이가 확인된 LHON환자 1례를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• 대한기계학회논문집
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• 제16권8호
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• pp.1429-1437
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• 1992

본 연구에서는 이완형 물성방정식을 바탕으로 하며 프와송 비가 일정하다는 가정을 하지 않는다. 또한 점탄성 지배방정식에 변분원리를 적용하고 유도되어진 식 에 유한요소해법을 사용하여 시스템 기본해석을 위한 연립방정식을 유도한다. 이와 함께 점탄성 물성함수의 유도 및 응력계산을 위한 공식화 과정도 설명한다. 제시된 방법론의 타당성 및 정확성을 보이기 위해서 평면응력 및 평면변형 문제의 변위 및 응력을 수치해석하여 이론해와 비교 검토하며, 아울러 시간증분의 변화와 Gauss poi- nts수가 수치정확도에 끼치는 영향을 조사한다.

• Advances in aircraft and spacecraft science
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• 제7권3호
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• pp.215-228
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• 2020

As is shown in the paper, the Koltunov-Rzhanitsyn singular kernel of heredity (when constructing mathematical models of the dynamics problem of the hereditary theory of viscoelasticity) adequately describes real mechanical processes, best approximates experimental data for a long period of time. A mathematical model of the problem of the flutter of viscoelastic plates moving in a gas with a high supersonic velocity is given. Using the Bubnov-Galerkin method, discrete models of the problem of the flatter of viscoelastic plates flowed over by supersonic gas flow are obtained. A numerical method is developed to solve nonlinear integro-differential equations (IDE) for the problem of the hereditary theory of viscoelasticity with weakly singular kernels. A general computational algorithm and a system of application programs have been developed, which allow one to investigate the nonlinear dynamic problems of the hereditary theory of viscoelasticity with weakly singular kernels. On the basis of the proposed numerical method and algorithm, nonlinear problems of the flutter of viscoelastic plates flowed over in a gas flow at an arbitrary angle are investigated. In a wide range of changes in various parameters of the plate, the critical velocity of the flutter is determined. It is shown that the singularity parameter α affects not only the oscillations of viscoelastic systems, but the critical velocity of the flutter as well.

• 대한근전도전기진단의학회지
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• 제20권2호
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• pp.148-152
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• 2018

Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder and one of the most common muscular dystrophies affecting adults. Charcot-Marie-Tooth (CMT) disease, a common hereditary neuropathy, is characterized by atrophy of the distal limbs and peripheral nerve abnormalities. The authors report a rare case involving a 24-year-old female who was diagnosed simultaneously with both DM1 and CMT1A based on the results of a nerve conduction study (NCS). The patient, who had previously been diagnosed with DM1, was admitted for lower extremity pain. Her electrodiagnostic examination continued to reveal severe sensorimotor demyelinating polyneuropathy, and a genetic study was performed to confirm whether she had other hereditary neuropathies, except DM1, that suggested CMT1A, the most common phenotype of CMT. Severe abnormalities in an NCS in a DM1 patient may suggest the incidental coexistence of hereditary neuropathies, and further evaluations, such as genetic studies, should be performed for proper diagnosis.

• Steel and Composite Structures
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• 제48권6호
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• pp.611-623
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• 2023

This work considered an optimal control formulation in the sense of Caputo derivatives. The optimality of the fractional optimal control problem. The tumor immune interaction in fractional form provides an excellent tool for the description of memory and hereditary properties of inter and intra cells. So the interaction between effector-cells, tumor cells and are modeled by using the definition of Caputo fractional order derivative that provides the system with long-time memory and gives extra degree of freedom. In addiltion, existence and local stability of fixed points are investigated for discrete model. Moreover, in order to achieve more efficient computational results of fractional-order system, a discretization process is performed to obtain its discrete counterpart. Our technique likewise allows the advancement of results, such as return time to baseline that are unrealistic with current model solvers.

• 대한신경과학회지
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• 제30권4호
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• pp.333-336
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• 2012

Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) gene is known to be associated with different clinical phenotypes; Silver syndrome, Charcot-Marie-Tooth type 2 with a dominant hand involvement and distal hereditary motor neuropathy type V (dHMN-V). Up to now, only two heterozygous mutations (N88S and S90L) in BSCL2 have been reported. We identified a N88S BSCL2 mutation in a dHMN-V family with a spastic gait by whole-exome sequencing. To our knowledge, this is the first report of a N88S BSCL2 mutation in Korean patient.